Mental Diseases Category (2991 diseases)

Including: anxiety, mood, dementia, psychotic, mental, dissociative, personality, bipolar, paranoid
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	62
2	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	43
3	c	INT414	Intellectual Developmental Disorder, X-Linked 29	35
4	P	INT404	Intellectual Developmental Disorder, X-Linked, Syndromic 13	35
5	c	INT407	Intellectual Developmental Disorder, X-Linked, Syndromic 11	25
6		INT422	Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia	38
7	P	KHL003	Kohlschutter-Tonz Syndrome	57
8	c	CRB176	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	46
9		INT412	Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	40
10		NRD151	Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy	39
11		INT410	Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	32
12	c	FCL027	Focal Segmental Glomerulosclerosis 3	33
13	P	FCL005	Focal Segmental Glomerulosclerosis	59
14	c	FCL082	Focal Segmental Glomerulosclerosis 4	20
15	c	DVL030	Developmental and Epileptic Encephalopathy 36	61
16	c	DVL027	Developmental and Epileptic Encephalopathy 9	52
17	c	DVL103	Developmental and Epileptic Encephalopathy 80	39
18	c	DVL097	Developmental and Epileptic Encephalopathy 73	36
19		INT408	Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	33
20	c	INT436	Intellectual Developmental Disorder, X-Linked, Syndromic 34	29
21	c	DVL104	Developmental and Epileptic Encephalopathy 81	26
22	c	INT424	Intellectual Developmental Disorder, X-Linked 97	24
23	c	FCL025	Focal Segmental Glomerulosclerosis 1	47
24	c	DVL100	Developmental and Epileptic Encephalopathy 76	40
25	c	FRN060	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6	33
26		ABN011	Abnormal Hair, Joint Laxity, and Developmental Delay	26
27	c	DVL035	Developmental and Epileptic Encephalopathy 4	47
28		INT418	Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	33
29	c	INT435	Intellectual Developmental Disorder, X-Linked, Syndromic 33	30
30		INT415	Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	29
31		NRD150	Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features	26
32		INT371	Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	23
33		DRV001	Dravet Syndrome	71
34		CNG437	Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay	42
35		CRB228	Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities	32
36	c	INT384	Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	30
37		DYS181	Dyssegmental Dysplasia with Glaucoma	24
38	c	DVL041	Developmental and Epileptic Encephalopathy 13	50
39	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	46
40		DVL146	Developmental and Epileptic Encephalopathy 39 with Leukodystrophy	45
41	c	FCL026	Focal Segmental Glomerulosclerosis 2	40
42	c	FCL028	Focal Segmental Glomerulosclerosis 5	39
43	c	DVL053	Developmental and Epileptic Encephalopathy 27	38
44	c	FCL085	Focal Segmental Glomerulosclerosis 7	37
45	c	DVL055	Developmental and Epileptic Encephalopathy 29	37
46	c	FCL043	Focal Segmental Glomerulosclerosis 6	37
47	c	SPN363	Spinocerebellar Ataxia, X-Linked 4	35
48		CHN077	Chung-Jansen Syndrome	34
49	c	DVL054	Developmental and Epileptic Encephalopathy 28	34
50	c	SYN073	Syngap1-Related Intellectual Disability	32
51	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	29
52	c	DVL058	Developmental and Epileptic Encephalopathy 32	28
53		BKR002	Baker-Gordon Syndrome	28
54	c	DVL083	Developmental and Epileptic Encephalopathy 59	26
55		INT405	Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism	24
56	c	DVL096	Developmental and Epileptic Encephalopathy 72	24
57	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	20
58		INT488	Intellectual Developmental Disorder, X-Linked, Syndromic, Abidi Type	20
59	c	INT429	Intellectual Developmental Disorder, X-Linked, Syndromic 32	19
60	c	INT470	Intellectual Developmental Disorder, X-Linked, Syndromic 7	17
61	c	INT500	Intellectual Developmental Disorder, X-Linked, Syndromic 17	16
62		INT501	Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	16
63	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	57
64	c	DVL033	Developmental and Epileptic Encephalopathy 1	57
65	c	DVL039	Developmental and Epileptic Encephalopathy 11	45
66	c	FRN045	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4	42
67	c	DVL045	Developmental and Epileptic Encephalopathy 17	40
68		PRP093	Pierpont Syndrome	38
69	c	INT403	Intellectual Developmental Disorder, X-Linked 21	34
70		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	32
71	c	FCL053	Focal Segmental Glomerulosclerosis 8	32
72	c	FCL055	Focal Segmental Glomerulosclerosis 9	31
73		INT441	Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	29
74		INT518	Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures	29
75		FRN030	Frontotemporal Dementia with Parkinsonism-17	28
76	c	INT434	Intellectual Developmental Disorder, X-Linked 12	28
77		INT383	Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	25
78	c	AMY104	Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia	24
79		INT570	Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features	24
80	c	INT387	Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures	22
81	c	AMY099	Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia	18
82		DNT005	Dentatorubral-Pallidoluysian Atrophy	55
83	P	DVL012	Developmental Dysplasia of the Hip 1	39
84		MCR064	Microcephaly, Seizures, and Developmental Delay	38
85		HYP241	Hypermethioninemia Due to Adenosine Kinase Deficiency	37
86	c	INT446	Intellectual Developmental Disorder, X-Linked 1	35
87	c	AMY105	Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia	32
88	c	DVL129	Developmental and Epileptic Encephalopathy 25	31
89		SHR124	Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures	31
90	c	INT419	Intellectual Developmental Disorder, X-Linked 30	30
91	c	INT420	Intellectual Developmental Disorder, X-Linked 93	27
92	c	INT431	Intellectual Developmental Disorder, X-Linked 99	27
93	c	INT439	Intellectual Developmental Disorder, X-Linked 104	26
94	c	INT421	Intellectual Developmental Disorder, X-Linked, Syndromic 14	25
95	c	DVL106	Developmental and Epileptic Encephalopathy 83	25
96	c	INT442	Intellectual Developmental Disorder, X-Linked 106	25
97		AMY102	Amyotrophic Lateral Sclerosis, Juvenile, with Dementia	24
98	c	INT575	Intellectual Developmental Disorder, Autosomal Dominant 67	22
99	c	INT438	Intellectual Developmental Disorder, X-Linked 103	22
100	c	INT445	Intellectual Developmental Disorder, X-Linked 107	21
101		INT482	Intellectual Developmental Disorder, Fra12a Type	21
102		INT444	Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	21
103	c	INT423	Intellectual Developmental Disorder, X-Linked 96	21
104	c	AMY114	Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia	20
105	c	INT440	Intellectual Developmental Disorder, X-Linked 105	19
106	c	INT433	Intellectual Developmental Disorder, X-Linked 101	19
107	c	INT432	Intellectual Developmental Disorder, X-Linked 100	17
108		EPL170	Epilepsy-Aphasia Spectrum	17
109		MTH089	Methylmalonic Aciduria and Homocystinuria, Cblx Type	48
110	c	DVL048	Developmental and Epileptic Encephalopathy 21	45
111	c	DVL056	Developmental and Epileptic Encephalopathy 30	44
112	c	DVL068	Developmental and Epileptic Encephalopathy 43	44
113		CNG501	Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder	44
114	c	DVL099	Developmental and Epileptic Encephalopathy 75	43
115	c	DVL067	Developmental and Epileptic Encephalopathy 42	43
116	c	DVL044	Developmental and Epileptic Encephalopathy 16	43
117	c	DVL077	Developmental and Epileptic Encephalopathy 53	42
118	c	DVL076	Developmental and Epileptic Encephalopathy 52	42
119	c	DVL072	Developmental and Epileptic Encephalopathy 47	41
120	c	MLT179	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	40
121	c	DVL064	Developmental and Epileptic Encephalopathy 38	40
122	c	DVL061	Developmental and Epileptic Encephalopathy 34	39
123	c	DVL098	Developmental and Epileptic Encephalopathy 74	39
124	c	DVL052	Developmental and Epileptic Encephalopathy 26	39
125	c	DVL073	Developmental and Epileptic Encephalopathy 48	38
126	c	DVL109	Developmental and Epileptic Encephalopathy 87	38
127	c	DVL060	Developmental and Epileptic Encephalopathy 50	38
128	P	PRR032	Pura-Related Neurodevelopmental Disorders	37
129	c	DVL078	Developmental and Epileptic Encephalopathy 54	36
130	c	DVL079	Developmental and Epileptic Encephalopathy 55	36
131	c	DVL069	Developmental and Epileptic Encephalopathy 44	36
132		WSM002	Waisman Syndrome	36
133	c	DVL059	Developmental and Epileptic Encephalopathy 33	34
134	c	DVL090	Developmental and Epileptic Encephalopathy 66	34
135	c	DVL057	Developmental and Epileptic Encephalopathy 31	34
136	c	DVL089	Developmental and Epileptic Encephalopathy 65	33
137		SNJ002	Snijders Blok-Campeau Syndrome	33
138	c	DVL084	Developmental and Epileptic Encephalopathy 60	33
139	c	DVL063	Developmental and Epileptic Encephalopathy 37	30
140	c	DVL107	Developmental and Epileptic Encephalopathy 84	30
141	c	DVL080	Developmental and Epileptic Encephalopathy 56	28
142		DMN026	Dementia Pugilistica	28
143	c	DVL071	Developmental and Epileptic Encephalopathy 46	28
144		ALP089	Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality	28
145		INT312	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	28
146		INT337	Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies	27
147	c	DVL066	Developmental and Epileptic Encephalopathy 41	27
148	c	DVL094	Developmental and Epileptic Encephalopathy 70	27
149	c	DVL093	Developmental and Epileptic Encephalopathy 69	27
150	c	DVL086	Developmental and Epileptic Encephalopathy 62	27
151	c	DVL074	Developmental and Epileptic Encephalopathy 49	27
152	c	DVL101	Developmental and Epileptic Encephalopathy 78	27
153	c	DVL092	Developmental and Epileptic Encephalopathy 68	26
154		FCL088	Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome	26
155	c	DVL091	Developmental and Epileptic Encephalopathy 67	26
156	c	DVL075	Developmental and Epileptic Encephalopathy 51	26
157	c	DVL070	Developmental and Epileptic Encephalopathy 45	26
158	c	DVL081	Developmental and Epileptic Encephalopathy 57	25
159		INT416	Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	25
160	c	DVL102	Developmental and Epileptic Encephalopathy 79	25
161	c	DVL105	Developmental and Epileptic Encephalopathy 82	25
162	c	DVL085	Developmental and Epileptic Encephalopathy 61	25
163	c	DVL087	Developmental and Epileptic Encephalopathy 63	24
164	c	DVL110	Developmental and Epileptic Encephalopathy 88	24
165	c	DVL095	Developmental and Epileptic Encephalopathy 71	24
166	c	DVL065	Developmental and Epileptic Encephalopathy 40	24
167	c	DVL082	Developmental and Epileptic Encephalopathy 58	23
168		INT459	Intellectual Developmental Disorder, Autosomal Recessive 34, with Variant Lissencephaly	22
169	c	INT498	Intellectual Developmental Disorder, X-Linked, Syndromic 9	18
170	c	GRN052	Grin2b-Related Neurodevelopmental Disorder	16
171	c	INT489	Intellectual Developmental Disorder, X-Linked 53	14
172	c	ATN031	Atn1-Related Neurodevelopmental Disorder	10
173		DRM001	Dermal Unilateral Segmental Cavernous Angioma	6
174	c	DVL038	Developmental and Epileptic Encephalopathy 7	54
175	c	DVL029	Developmental and Epileptic Encephalopathy 2	53
176	c	DVL037	Developmental and Epileptic Encephalopathy 5	42
177	c	DVL049	Developmental and Epileptic Encephalopathy 23	42
178		OKR001	Okur-Chung Neurodevelopmental Syndrome	41
179	c	DVL034	Developmental and Epileptic Encephalopathy 3	39
180	c	DVL028	Developmental and Epileptic Encephalopathy 8	39
181	c	DVL040	Developmental and Epileptic Encephalopathy 12	39
182		BLB005	Beaulieu-Boycott-Innes Syndrome	38
183	P	ATS366	Autism X-Linked 2	37
184	c	DVL050	Developmental and Epileptic Encephalopathy 24	37
185		INT313	Intellectual Developmental Disorder with Cardiac Arrhythmia	34
186		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	32
187	c	DVL046	Developmental and Epileptic Encephalopathy 18	32
188	c	DVL119	Developmental and Epileptic Encephalopathy 6b	31
189		CLF048	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	29
190		INT437	Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	28
191	c	DVL088	Developmental and Epileptic Encephalopathy 64	27
192	c	DVL047	Developmental and Epileptic Encephalopathy 19	27
193		HYP697	Hyperphosphatasia with Mental Retardation Syndrome 6	26
194	c	INT393	Intellectual Developmental Disorder, Autosomal Dominant 64	26
195	c	DVL032	Developmental and Epileptic Encephalopathy 90	25
196		INT378	Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures	25
197	c	INT400	Intellectual Developmental Disorder, Autosomal Dominant 65	24
198	c	INT385	Intellectual Developmental Disorder, Autosomal Dominant 61	24
199		INT451	Intellectual Developmental Disorder, X-Linked, Syndromic, with Pigmentary Mosaicism and Coarse Facies	24
200		INT374	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures	23
201		INT329	Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities	23
202	c	DVL124	Developmental and Epileptic Encephalopathy 97	22
203		NRD071	Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements	22
204		INT502	Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	22
205		NRD090	Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements	21
206	c	DVL108	Developmental and Epileptic Encephalopathy 86	21
207		RDL027	Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	18
208		NVL002	Novelty Seeking Personality Trait	15
209		LRN006	Laurin-Sandrow Syndrome	52
210	P	DVL113	Developmental and Epileptic Encephalopathy	51
211	c	DBT104	Diabetes Mellitus, Permanent Neonatal, 1	51
212	P	PRM030	Permanent Neonatal Diabetes Mellitus	51
213		GLB021	Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies	46
214		GRS001	Gerstmann Syndrome	42
215		BRK002	Birk-Barel Syndrome	39
216	c	MJR023	Major Affective Disorder 7	39
217	P	PRS013	Prosopagnosia	39
218		MLT001	Multiple Chemical Sensitivity	39
219		INT372	Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	38
220	c	DVL043	Developmental and Epileptic Encephalopathy 15	38
221		TMP011	Temple-Baraitser Syndrome	36
222		CMB076	Combined Oxidative Phosphorylation Deficiency 31	35
223		DVL123	Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta	30
224	c	DBT107	Diabetes Mellitus, Permanent Neonatal, 4	29
225		INT328	Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities	29
226	c	PRS058	Prosopagnosia, Hereditary	28
227	c	INT566	Intellectual Developmental Disorder, Autosomal Dominant 58	27
228		CRN275	Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	26
229	c	INT447	Intellectual Developmental Disorder, X-Linked 9	26
230		INT365	Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies	26
231		KCN019	Kcnk9 Imprinting Syndrome	25
232	P	DVL137	Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1	25
233		NRD052	Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures	25
234	c	INT413	Intellectual Developmental Disorder, X-Linked 63	25
235		NRD086	Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia	25
236		INT389	Intellectual Developmental Disorder with Seizures and Language Delay	25
237	c	INT388	Intellectual Developmental Disorder, Autosomal Dominant 62	25
238	c	INT426	Intellectual Developmental Disorder, X-Linked 41	24
239		INT377	Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly	23
240		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	23
241		NRD063	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination	23
242	c	INT406	Intellectual Developmental Disorder, X-Linked 58	22
243		NRD060	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia	22
244		STB004	Setbp1 Haploinsufficiency Disorder	22
245	c	INT386	Intellectual Developmental Disorder, Autosomal Dominant 59	21
246	c	INT577	Intellectual Developmental Disorder, Autosomal Dominant 68	21
247	c	INT573	Intellectual Developmental Disorder, Autosomal Dominant 66	21
248	c	INT496	Intellectual Developmental Disorder, X-Linked 45	20
249		CRP038	Corpus Callosum, Agenesis of, with Impaired Intellectual Development, Ocular Coloboma, and Micrognathia	20
250	c	DVL142	Developmental and Epileptic Encephalopathy 107	19
251		DVL005	Developmental Dyspraxia	19
252		INT343	Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects	18
253	c	INT499	Intellectual Developmental Disorder, X-Linked 95	15
254	c	INT572	Intellectual Developmental Disorder, Autosomal Dominant 69	15
255	c	AMY091	Amyotrophic Lateral Sclerosis 1	87
256	P	PRK057	Parkinson Disease, Late-Onset	81
257	P	HYP086	Hypothyroidism	68
258	c	CNG006	Congenital Hypothyroidism	64
259	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	62
260	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	55
261	c	AMY045	Amyotrophic Lateral Sclerosis 4, Juvenile	51
262	c	HRD173	Hereditary Late-Onset Parkinson Disease	51
263	c	PRK071	Parkinson Disease 14, Autosomal Recessive	48
264		OGD001	Ogden Syndrome	48
265	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	47
266	c	AMY069	Amyotrophic Lateral Sclerosis 21	47
267	c	AMY090	Amyotrophic Lateral Sclerosis 8	46
268	c	PRK065	Parkinson Disease 20, Early-Onset	45
269	c	PRK093	Parkinson Disease 8, Autosomal Dominant	44
270	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	44
271	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	43
272	c	PRK052	Parkinson Disease 17	43
273	c	AMY083	Amyotrophic Lateral Sclerosis 11	42
274		MST006	Mast Syndrome	41
275		CHR662	Chromosome 15q13.3 Deletion Syndrome	41
276	c	PRK091	Parkinson Disease 4, Autosomal Dominant	41
277	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	41
278	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
279	c	PRK090	Parkinson Disease 3, Autosomal Dominant	39
280	c	AMY088	Amyotrophic Lateral Sclerosis 3	38
281	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	38
282	c	MJR008	Major Affective Disorder 2	38
283	c	ERL056	Early-Onset Parkinson's Disease	38
284	c	AMY059	Amyotrophic Lateral Sclerosis 19	37
285	c	MJR024	Major Affective Disorder 9	37
286	c	AMY067	Amyotrophic Lateral Sclerosis 18	37
287	c	PRK070	Parkinson Disease 21	35
288	c	MJR022	Major Affective Disorder 8	34
289	c	MJR004	Major Affective Disorder 4	34
290	c	MJR003	Major Affective Disorder 6	34
291	c	MJR006	Major Affective Disorder 5	34
292	c	AMY085	Amyotrophic Lateral Sclerosis 9	33
293		HFN001	Hao-Fountain Syndrome	33
294	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	33
295	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	32
296	c	AMY081	Amyotrophic Lateral Sclerosis Type 12	32
297		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	32
298	c	AMY063	Amyotrophic Lateral Sclerosis 20	32
299	c	DVL114	Developmental and Epileptic Encephalopathy 91	31
300	c	AMY113	Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia	31
301	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	30
302	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	28
303		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	28
304	c	DVL112	Developmental and Epileptic Encephalopathy 89	28
305	c	PRK083	Parkinson Disease 22, Autosomal Dominant	27
306	c	DVL116	Developmental and Epileptic Encephalopathy 93	27
307	c	PRK098	Parkinson Disease 5, Autosomal Dominant	27
308	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
309	c	CNT101	Central Congenital Hypothyroidism	26
310	c	DVL115	Developmental and Epileptic Encephalopathy 92	26
311	c	PRK099	Parkinson Disease 18, Autosomal Dominant	26
312		PLR024	Pilarowski-Bjornsson Syndrome	25
313	c	PRK094	Parkinson Disease 11, Autosomal Dominant	24
314	c	PRK096	Parkinson Disease 13, Autosomal Dominant	24
315	c	JVN058	Juvenile-Onset Parkinson's Disease	24
316	c	AMY089	Amyotrophic Lateral Sclerosis 7	24
317	c	AMY110	Amyotrophic Lateral Sclerosis 24	23
318	c	AMY108	Amyotrophic Lateral Sclerosis 23	22
319		PCH022	Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures	22
320		INT311	Intellectual Developmental Disorder with Neuropsychiatric Features	21
321	c	FRN061	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8	21
322	c	PRK104	Parkinson Disease 24, Autosomal Dominant	21
323	c	AMY112	Amyotrophic Lateral Sclerosis 25	20
324	c	PRK025	Parkinson Disease 10	20
325	c	PRK058	Parkinson Disease 16	20
326	c	PRM316	Primary Congenital Hypothyroidism	19
327		SPN347	Spondyloepiphyseal Dysplasia Tarda with Mental Retardation	17
328		ZRS001	Zori Stalker Williams Syndrome	17
329	c	INT485	Intellectual Developmental Disorder, X-Linked 23	17
330	c	PRK022	Parkinson Disease 12	16
331	c	TRN047	Transient Congenital Hypothyroidism	16
332	c	INT490	Intellectual Developmental Disorder, X-Linked 73	16
333	c	INT503	Intellectual Developmental Disorder, X-Linked, Syndromic 12	15
334	c	INT495	Intellectual Developmental Disorder, X-Linked 77	15
335	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	14
336	c	INT497	Intellectual Developmental Disorder, X-Linked 84	14
337	c	CNG543	Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies	14
338	c	INT528	Intellectual Developmental Disorder, Autosomal Recessive 19	14
339	c	INT493	Intellectual Developmental Disorder, X-Linked 81	13
340	c	VPS003	Vps35-Related Parkinson Disease	12
341	c	RRH009	Rare Hypothyroidism	12
342		CHM008	Chmp2b Frontotemporal Dementia	11
343	c	GNB002	Gnb5-Related Neurodevelopmental Disorder	11
344	c	HNR003	Hnrnpu-Related Neurodevelopmental Disorder	11
345	c	GRN056	Grin1-Related Neurodevelopmental Disorder	10
346	c	HNR004	Hnrnph2-Related Neurodevelopmental Disorder	10
347	c	INT491	Intellectual Developmental Disorder, X-Linked 42	10
348	c	CNG591	Congenital Hypothyroidism Due to Developmental Anomaly	8
349	c	TRN076	Transient Congenital Hypothyroidism Due to Neonatal Factor	5
350	c	HYP232	Hypothyroidism Due to Iodide Transport Defect	5
351	c	TRN075	Transient Congenital Hypothyroidism Due to Maternal Factor	5
352	c	RRD014	Rare Adult Hypothyroidism	4
353		CNG438	Congenital Disorder of Glycosylation with Developmental Anomaly	4
354	P	PTT014	Pitt-Hopkins Syndrome	60
355	c	PTT029	Pitt-Hopkins-Like Syndrome 1	54
356	c	DVL118	Developmental and Epileptic Encephalopathy 94	46
357	c	PTT030	Pitt-Hopkins-Like Syndrome 2	45
358		CRB215	Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay	37
359		AMM001	Amme Complex	32
360		INT333	Intellectual Developmental Disorder with Autism and Speech Delay	30
361	P	MCR352	Microphthalmia, Isolated, with Coloboma 6	30
362		CNG545	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies	30
363		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	29
364		NRD037	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies	29
365		DVL024	Developmental Delay with or Without Dysmorphic Facies and Autism	29
366		PRR044	Poirier-Bienvenu Neurodevelopmental Syndrome	27
367	c	DBT105	Diabetes Mellitus, Permanent Neonatal, 2	27
368		NRD039	Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language	27
369		SHR133	Short Stature-Micrognathia Syndrome	27
370	c	DVL120	Developmental and Epileptic Encephalopathy 95	27
371		INT310	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis	27
372		CRB205	Cerebellar Atrophy with Seizures and Variable Developmental Delay	27
373		INT571	Intellectual Developmental Disorder with Autism and Macrocephaly	26
374	c	NBS001	Nabais Sa-De Vries Syndrome, Type 1	26
375	c	MCR214	Microphthalmia, Isolated, with Coloboma 9	26
376		INT366	Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities	26
377	c	DVL127	Developmental and Epileptic Encephalopathy 98	26
378	c	DVL128	Developmental and Epileptic Encephalopathy 99	26
379	c	MCR349	Microphthalmia, Isolated, with Coloboma 3	26
380	c	CHD006	Chd2-Related Neurodevelopmental Disorders	26
381		NRD109	Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies	26
382		MCR380	Microcephaly, Developmental Delay, and Brittle Hair Syndrome	25
383		CRD247	Cardiofacioneurodevelopmental Syndrome	25
384		TRC123	Trichohepatoneurodevelopmental Syndrome	25
385		FCL093	Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome	25
386		CRD243	Cardiac, Facial, and Digital Anomalies with Developmental Delay	25
387	P	NBS002	Nabais Sa-De Vries Syndrome, Type 2	25
388		NRD043	Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities	25
389		BRC106	Brachycephaly, Trichomegaly, and Developmental Delay	25
390	c	DVL131	Developmental and Epileptic Encephalopathy 100	25
391		NRD072	Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities	25
392		INT331	Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay	24
393		DVL125	Developmental Delay with or Without Intellectual Impairment or Behavioral Abnormalities	24
394		ALK023	Al Kaissi Syndrome	24
395		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	24
396		NRD144	Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia	24
397	c	DNC008	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	24
398		ALZ064	Alzahrani-Kuwahara Syndrome	24
399		INT363	Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies	23
400		WHT021	White-Kernohan Syndrome	23
401		NRD069	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment	23
402		EPL253	Epilepsy, Early-Onset, with or Without Developmental Delay	23
403		NRD147	Neurodevelopmental Disorder with or Without Variable Movement or Behavioral Abnormalities	23
404		NRD045	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills	23
405		BRL013	Baralle-Macken Syndrome	23
406	c	DVL132	Developmental and Epileptic Encephalopathy 101	22
407		NRD066	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements	22
408		INT392	Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures	22
409		DVL117	Developmental Delay with Dysmorphic Facies and Dental Anomalies	22
410	c	PTT042	Pitt-Hopkins-Like Syndrome	22
411		NRD142	Neurodevelopmental Disorder with Hearing Loss and Spasticity	22
412	c	DVL121	Developmental and Epileptic Encephalopathy 96	22
413		CHR669	Chromosome 2p16.3 Deletion Syndrome	22
414		INT347	Intellectual Developmental Disorder with Severe Speech and Ambulation Defects	21
415	c	FRN062	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5	21
416		NRD130	Neurodevelopmental Disorder with Motor and Speech Delay and Behavioral Abnormalities	21
417	c	MCR350	Microphthalmia, Isolated, with Coloboma 5	21
418		INT376	Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia	21
419		INT569	Intellectual Developmental Disorder with or Without Peripheral Neuropathy	20
420		BRN151	Brunet-Wagner Neurodevelopmental Syndrome	20
421	P	DNC006	Diencephalic-Mesencephalic Junction Dysplasia	20
422	c	MCR210	Microphthalmia, Isolated, with Coloboma 7	19
423	c	MCR271	Microphthalmia, Isolated, with Coloboma 10	19
424	c	TSS007	Tessadori-Van Haaften Neurodevelopmental Syndrome 2	19
425		SGM006	Segmental Odontomaxillary Dysplasia	16
426	c	MCR335	Microphthalmia, Isolated, with Coloboma 4	14
427	c	MCR346	Microphthalmia, Isolated, with Coloboma 2	14
428	c	MCR338	Microphthalmia, Isolated, with Coloboma 1	13
429		PRK068	Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments	12
430	P	HNT016	Huntington Disease	72
431		WST001	West Syndrome	64
432	c	KLF004	Kleefstra Syndrome 1	54
433	c	HNT004	Huntington Disease-Like 2	49
434	P	KLF001	Kleefstra Syndrome	49
435	P	MGL002	Megalencephalic Leukoencephalopathy with Subcortical Cysts	49
436	c	SPN296	Spinocerebellar Ataxia 17	49
437	c	MGL009	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	47
438		CHR492	Chromosome 13q14 Deletion Syndrome	47
439		CLB026	Colobomatous Microphthalmia	46
440	c	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	41
441	c	ALP076	Alopecia-Mental Retardation Syndrome 1	40
442		CHR704	Chromosome 16p11.2 Deletion Syndrome	40
443	c	DYS172	Dystonia 27	38
444		GBR007	Gabriele-De Vries Syndrome	36
445		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	35
446	c	HNT011	Huntington Disease-Like 3	35
447		MCR183	Microcephaly-Capillary Malformation Syndrome	35
448	P	INC034	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1	32
449	c	CTS048	Cutis Laxa, Autosomal Recessive, Type Iie	31
450		BDV001	Bdv Syndrome	30
451	c	INT425	Intellectual Developmental Disorder, X-Linked 19	30
452		MCR378	Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant	29
453	c	JVN015	Juvenile Huntington Disease	28
454		FGS004	Fg Syndrome 4	27
455		PST103	Postpartum Psychosis	27
456		DTS001	Diets-Jongmans Syndrome	26
457		IMM146	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	26
458		PSD088	Pseudobulbar Affect	25
459		NRD084	Neurodevelopmental Disorder with Absent Language and Variable Seizures	25
460	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	25
461	c	INT427	Intellectual Developmental Disorder, X-Linked 90	24
462	c	INT411	Intellectual Developmental Disorder, X-Linked 72	24
463		CLF057	Cleft Palate, Proliferative Retinopathy, and Developmental Delay	23
464		GLB025	Global Developmental Delay with or Without Impaired Intellectual Development	22
465		INT327	Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia	22
466		CMB112	Combined Oxidative Phosphorylation Deficiency 53	22
467		RCH010	Richieri-Costa/guion-Almeida Syndrome	22
468	c	DVL134	Developmental and Epileptic Encephalopathy 102	22
469	c	DVL135	Developmental and Epileptic Encephalopathy 103	21
470		RLN005	Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked	21
471		INT334	Intellectual Developmental Disorder and Retinitis Pigmentosa	21
472	c	DVL141	Developmental and Epileptic Encephalopathy 106	21
473		DVL140	Developmental Delay, Hypotonia, and Impaired Language	21
474	c	DVL136	Developmental and Epileptic Encephalopathy 104	20
475		GLB026	Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine	20
476		INT574	Intellectual Developmental Disorder with Language Impairment and Early-Onset Dopa-Responsive Dystonia-Parkinsonism	20
477		INT330	Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies	20
478		INT580	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	19
479		DVL139	Developmental and Epileptic Encephalopathy 105 with Hypopituitarism	19
480	c	HNT013	Huntington Disease-Like Syndrome	19
481	c	TSS008	Tessadori-Van Haaften Neurodevelopmental Syndrome 3	19
482	c	INC035	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3	18
483	c	INT494	Intellectual Developmental Disorder, X-Linked 46	18
484	c	DVL143	Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2	18
485	c	DVL011	Developmental Dysplasia of the Hip 2	18
486		INT581	Intellectual Developmental Disorder with Autism and Dysmorphic Facies	18
487	c	TSS009	Tessadori-Van Haaften Neurodevelopmental Syndrome 4	17
488		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	17
489		DVL144	Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders	17
490		NRD178	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities	17
491		PLM162	Palmomental Reflex	16
492		NRD157	Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures	16
493		NRD168	Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures	15
494	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	15
495		NRD165	Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures	15
496	c	MGL041	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b	14
497		NRD171	Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties	14
498		DVL147	Developmental Delay with Variable Intellectual Disability and Dysmorphic Facies	14
499	c	INT486	Intellectual Developmental Disorder, X-Linked 20	14
500		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	14
501		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	14
502	P	ALP110	Alopecia-Mental Retardation Syndrome	13
503	c	DVL148	Developmental and Epileptic Encephalopathy 108	13
504		NRD167	Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay	12
505	c	DVL151	Developmental and Epileptic Encephalopathy 110	11
506		PM1001	Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome	11
507	c	DVL150	Developmental and Epileptic Encephalopathy 109	10
508		DVL149	Developmental Delay, Language Impairment, and Ocular Abnormalities	10
509		INT583	Intellectual Developmental Disorder with Ocular Anomalies and Distinctive Facial Features	8
510		GRN066	Grin2b-Related Developmental Delay, Intellectual Disability and Autism Spectrum Disorder	5
511		PRM330	Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly	5
512		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	5
513		CRB216	Cerebellar Hyplasia/atrophy, Epilepsy, and Global Developmental Delay	4
514		DVL152	Developmental Delay, Hypotrophy, and Dysmorphic Features Without Moebius Syndrome	2
515	P	DMN002	Dementia	72
516	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	66
517		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	55
518	c	ANT077	Anterior Segment Dysgenesis 1	52
519	P	CMP008	Compartment Syndrome	51
520	P	ANT088	Anterior Segment Dysgenesis	49
521	c	ANT085	Anterior Segment Dysgenesis 5	47
522	c	ANT071	Anterior Segment Dysgenesis 4	46
523	c	CRB170	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2	44
524	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	43
525		OLV002	Oliver Syndrome	42
526	P	OVR082	Overgrowth Syndrome	42
527		CHR523	Chromosome 15q11.2 Deletion Syndrome	42
528	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	40
529	c	PK3004	Pik3ca-Related Overgrowth Spectrum	38
530		MXL016	Maxillonasal Dysplasia, Binder Type	38
531	c	ANT084	Anterior Segment Dysgenesis 3	38
532	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	37
533		SPS226	Spastic Paraplegia, Ataxia, and Mental Retardation	37
534	c	TRC125	Trichothiodystrophy 7, Nonphotosensitive	36
535	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	36
536		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	35
537	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	35
538		CMB044	Combined Oxidative Phosphorylation Deficiency 14	35
539	c	PK3005	Pik3ca-Related Overgrowth Syndrome	32
540		CHR498	Chromosome 16p11.2 Duplication Syndrome	32
541	c	TRC103	Trichothiodystrophy 5, Nonphotosensitive	31
542	c	ANT083	Anterior Segment Dysgenesis 7	31
543	c	HYP890	Hyperphosphatasia with Impaired Intellectual Development Syndrome 2	30
544	P	CRD262	Cardiac Valvular Dysplasia 1	30
545	c	TRC117	Trichothiodystrophy 6, Nonphotosensitive	30
546		SGM008	Segmental Dystonia	29
547		VRV001	Ververi-Brady Syndrome	29
548		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	28
549		CMB085	Combined Oxidative Phosphorylation Deficiency 35	27
550	c	ANT087	Anterior Segment Dysgenesis 6	26
551		VSS003	Vissers-Bodmer Syndrome	26
552	c	VND004	Van Der Woude Syndrome 2	25
553		ENV003	Environmental Induced Asthma	25
554		HRL002	Harlequin Syndrome	24
555	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	23
556	P	NNP004	Nonphotosensitive Trichothiodystrophy	23
557		HYP823	Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome	23
558	c	ANT010	Anterior Compartment Syndrome	23
559		MLT146	Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism	22
560		NRD053	Neurodevelopmental Disorder with Spasticity and Poor Growth	22
561		ISL163	Isolated Childhood Apraxia of Speech	21
562		PRR029	Pierre Robin Syndrome and Oligodactyly	21
563		RSS027	Russell-Silver Syndrome, X-Linked	21
564	c	INT492	Intellectual Developmental Disorder, X-Linked 2	20
565		MCR052	Microcephaly Microcornea Syndrome Seemanova Type	19
566	c	PNC122	Panic Disorder 1	19
567		NRD064	Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion	19
568		16P008	16p11.2 Duplication	19
569		BRC121	Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation	18
570	c	CRD263	Cardiac Valvular Dysplasia 2	18
571	c	GLY116	Glycosylphosphatidylinositol Biosynthesis Defect 25	18
572		CHM001	Cahmr Syndrome	17
573		MNT253	Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis	17
574		GRN059	Grn Frontotemporal Dementia	17
575		DND020	Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy	16
576		CHR397	Chromosome Xp11.3 Deletion Syndrome	16
577	c	INT487	Intellectual Developmental Disorder, X-Linked 14	15
578	c	SCN087	Scn3a-Related Neurodevelopmental Disorder	15
579		NRD169	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language	14
580		FXP001	Foxp2-Related Speech and Language Disorders	14
581	c	MJR021	Major Affective Disorder 3	13
582		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	13
583		HYP688	Hypospadias-Mental Retardation Syndrome	13
584		PRM291	Premature Aging Syndrome, Okamoto Type	13
585		MTP032	Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness	13
586		DWR021	Dwarfism, Mental Retardation, and Eye Abnormality	13
587		HYP816	Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes	12
588		STR104	Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features	12
589		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	12
590		MNT316	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	12
591		ART149	Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies	12
592	c	GRN068	Grin2d-Related Developmental and Epileptic Encephalopathy	11
593		MNT039	Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block	11
594		MTR081	Motor Neuron Disease with Dementia and Ophthalmoplegia	11
595	c	MPT002	Mapt-Related Frontotemporal Dementia	11
596		SPS194	Spastic Paresis, Glaucoma, and Mental Retardation	11
597		PRS056	Presenile Dementia, Kraepelin Type	11
598		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	11
599		INT222	Intermediate Dend Syndrome	10
600		ICH065	Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation	10
601		HRD035	Hair Defect with Photosensitivity and Mental Retardation	10
602		PCS004	Pacs1 Neurodevelopmental Disorder	10
603	c	RRD051	Rare Dementia	10
604		DVL026	Developmental Defect of the Eye	10
605		SPS195	Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation	10
606	c	EZH001	Ezh2-Related Overgrowth	10
607		ATX043	Ataxia with Myoclonic Epilepsy and Presenile Dementia	10
608		ART029	Aortic Arch Anomaly with Peculiar Facies and Mental Retardation	10
609		HYP783	Hypogonadism with Low-Grade Mental Deficiency and Microcephaly	10
610		CTS047	Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation	10
611	c	STD003	Setd1b-Related Neurodevelopmental Disorder	9
612		BRC107	Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay	9
613		SPN397	Spinal Muscular Atrophy with Microcephaly and Mental Subnormality	9
614		DMN041	Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques	9
615		CTN035	Ctnnb1 Neurodevelopmental Disorder	9
616		EPL197	Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation	9
617		GRW037	Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia	9
618	c	PPP002	Ppp2r5d-Related Neurodevelopmental Disorder	9
619		IND013	Indolylacroyl Glycinuria with Mental Retardation	9
620		PSD115	Pseudouridinuria and Mental Defect	8
621	c	EDR001	Eed-Related Overgrowth	8
622		CRM008	Crumpled Helices and Small Mouth	8
623	P	ATX048	Ataxia with Dementia	8
624		GNT105	Genetic Dementia	7
625		LTH051	Lethal Brain and Heart Developmental Defects	7
626		MCR072	Microdontia Hypodontia Short Stature	6
627		FCL048	Focal, Segmental or Multifocal Dystonia	6
628		GNT069	Genetic Developmental Defect of the Eye	6
629		NRD075	Neurodegenerative Disease with Dementia	6
630		FBR095	Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation	6
631		STR109	Structural Developmental Eye Defect	5
632		SPN344	Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation	5
633		FRN054	Frontotemporal Degeneration with Dementia	5
634		MCR342	Microcephaly, Macrotia, and Mental Retardation	5
635		GN1002	Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum	5
636		CHT003	Chitty Hall Webb Syndrome	5
637		ANT094	Anterior Segment Developmental Anomaly Without Extraocular Manifestations	4
638	P	SLC044	Slc12a2-Related Autosomal Dominant Infantile-Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome	4
639		ANT090	Anterior Segment Developmental Abnormality with Extraocular Manifestations	4
640	c	INF189	Infectious Disease with Dementia	3
641		AMY096	Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability	3
642	c	ERL061	Early-Onset Ataxia with Dementia	3
643	c	LTN027	Late-Onset Ataxia with Dementia	3
644	c	SLC045	Slc12a2-Related Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome	3
645		CNT055	Cantu Sanchez-Corona Hernandez Syndrome	3
646		CRB214	Cerebral Lipidosis with Dementia	3
647		DVL145	Developmental Cardiac Valvular Defect	2
648		ANT091	Anterior Segment Developmental Anomaly of Genetic Origin	2
649	c	ALZ065	Alzheimer Disease, Familial, 1	87
650		GLL008	Gilles De La Tourette Syndrome	66
651	P	CRN015	Cornelia De Lange Syndrome	66
652	P	ALC033	Alcohol Use Disorder	64
653		TBC004	Tobacco Addiction	64
654	c	CRN139	Cornelia De Lange Syndrome 1	62
655		ETN001	Eating Disorder	58
656		VSC002	Vascular Dementia	57
657	P	FTL001	Fetal Alcohol Syndrome	57
658	c	ALZ056	Alzheimer Disease 3	56
659		AMN003	Amnestic Disorder	56
660		OPT003	Opiate Dependence	55
661	P	AGN002	Agnosia	55
662		ACT084	Acute Stress Disorder	53
663		TRC010	Trichotillomania	52
664	c	ERL029	Early-Onset, Autosomal Dominant Alzheimer Disease	52
665	P	SBS003	Substance Abuse	51
666		PNG002	Pain Agnosia	50
667	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	49
668		PTH002	Pathological Gambling	49
669	c	ALZ049	Alzheimer Disease 2	48
670		SBC016	Subacute Delirium	48
671	c	ALZ054	Alzheimer Disease 4	48
672	c	ALZ045	Alzheimer Disease 9	48
673	c	SPN293	Spinocerebellar Ataxia 12	48
674		SMT001	Somatization Disorder	48
675		CCN002	Cocaine Abuse	47
676	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	47
677		WTH001	Withdrawal Disorder	47
678		DLY008	Delayed Sleep Phase Disorder	47
679		ALX001	Alexia	46
680		SBS004	Substance Dependence	45
681		GND019	Gender Incongruence	45
682		DRG003	Drug Dependence	45
683	c	ALZ062	Alzheimer Disease 19	45
684		SPC005	Speech Disorder	45
685		CNN002	Cannabis Abuse	45
686		NRD132	Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language	45
687	c	CHR056	Chronic Tic Disorder	44
688		OPD001	Opioid Abuse	44
689		ATY001	Atypical Depressive Disorder	44
690		HRN003	Heroin Dependence	43
691		MTS001	Mutism	43
692		PHB003	Phobia, Specific	43
693		NMN001	Nominal Aphasia	43
694		BNS003	Binswanger's Disease	42
695		SXL006	Sexual Health Disorder	42
696	P	PRK105	Parkinsonism-Dystonia 1, Infantile-Onset	42
697	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	42
698		NNT008	Neonatal Abstinence Syndrome	42
699		CNN001	Cannabis Dependence	41
700	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	41
701		MRP001	Morphine Dependence	40
702		RTR001	Retrograde Amnesia	40
703		PRM020	Premenstrual Tension	40
704		HYP030	Hypoactive Sexual Desire Disorder	40
705	c	SCH079	Schizophrenia 1	40
706		MLN003	Melancholia	40
707		ANS006	Anosognosia	40
708	c	KLF005	Kleefstra Syndrome 2	39
709		SBJ001	Subjective Cognitive Decline	39
710		FCT008	Factitious Disorder	39
711		AGR018	Agraphia	38
712		PRM003	Premature Ejaculation	38
713		KLP001	Kleptomania	38
714		AMP007	Amphetamine Abuse	37
715		STR015	Stereotypic Movement Disorder	37
716	c	ALZ058	Alzheimer Disease 11	37
717	c	ZMM002	Zimmermann-Laband Syndrome 1	37
718		PHY002	Physical Disorder	37
719		ALX002	Alexithymia	36
720		PRD002	Periodic Limb Movement Disorder	36
721		ECH002	Echolalia	36
722		PCD001	Pica Disease	36
723	c	ERL020	Early-Onset Schizophrenia	36
724	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	35
725	c	ALZ057	Alzheimer Disease 10	35
726		CHP003	Chopra-Amiel-Gordon Syndrome	35
727		PDP001	Pedophilia	35
728	c	ALZ063	Alzheimer's Disease 1	35
729		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	34
730		CHR524	Chromosome 16p13.3 Duplication Syndrome	34
731	c	SCH045	Schizophrenia 12	34
732		ATY003	Atypical Autism	34
733	P	SYN057	Syndromic Intellectual Disability	33
734	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	33
735		PYR003	Pyromania	33
736	P	ZMM001	Zimmermann-Laband Syndrome	33
737		ART014	Articulation Disorder	33
738		TNN015	Tonne-Kalscheuer Syndrome	32
739	P	SPC019	Specific Language Impairment	32
740	c	ALC016	Alcohol Sensitivity, Acute	32
741		FLY001	Flying Phobia	32
742	c	EPL009	Epilepsy Progressive Myoclonic Type 3	32
743		RFQ001	Rafiq Syndrome	31
744		CPG001	Capgras Syndrome	31
745		SBS005	Substance-Induced Psychosis	31
746		GRD004	Gardner-Diamond Syndrome	31
747		GBT001	Gaba-Transaminase Deficiency	31
748	c	ALZ050	Alzheimer Disease 5	30
749		SXL001	Sexual Sadism	30
750		PSY003	Psychosexual Disorder	30
751	c	ALZ012	Alzheimer Disease 12	29
752	c	SCH083	Schizophrenia 7	29
753		CHR268	Chromosome 8q Duplication	29
754		ODN024	O'donnell-Luria-Rodan Syndrome	29
755		CHR248	Chromosome 4p Duplication	29
756	c	RNG020	Ring Chromosome 4	28
757	c	ALZ059	Alzheimer Disease 13	28
758	c	SCH052	Schizophrenia 14	28
759		MNC002	Munchausen by Proxy	28
760		ANM002	Animal Phobia	28
761	c	CFF012	Coffin-Siris Syndrome 7	27
762	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	27
763		GTP001	Gait Apraxia	27
764		WRT002	Writing Disorder	27
765		FTS001	Fetishism	27
766	c	ATS367	Autism X-Linked 3	26
767	c	CFF006	Coffin-Siris Syndrome 5	26
768		PRP015	Paraphilia Disorder	26
769		AMS001	Amusia	26
770	c	ALZ016	Alzheimer Disease 8	26
771	c	ALZ014	Alzheimer Disease 16	26
772		TRN006	Transvestism	26
773	c	SCH081	Schizophrenia 6	26
774		BCK019	Beck-Fahrner Syndrome	26
775		IMG002	Imagawa-Matsumoto Syndrome	25
776		BRB003	Barbiturate Abuse	25
777		CHR241	Chromosome 2q24 Microdeletion Syndrome	25
778		ALC003	Alcoholic Psychosis	25
779	c	ALZ015	Alzheimer Disease 6	25
780	c	GNR046	Generalized Epilepsy with Febrile Seizures Plus, Type 10	25
781		MXD044	Mixed Sleep Apnea	24
782	c	ATS365	Autism X-Linked 1	24
783		NSP004	Nosophobia	24
784	c	ALZ061	Alzheimer Disease 15	24
785	c	RNG006	Ring Chromosome 11	24
786		VYR001	Voyeurism	24
787		BST003	Bestiality	24
788		HLL005	Hallucinogen Dependence	24
789	c	TRN005	Transient Tic Disorder	24
790		CHR634	Chromosome 16p12.1 Deletion Syndrome, 520-Kb	23
791	c	ALZ032	Alzheimer Disease 18	23
792	c	ZMM003	Zimmermann-Laband Syndrome 2	23
793		TCT002	Tactile Agnosia	23
794	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	23
795	c	ALZ053	Alzheimer Disease 7	23
796		ASS001	Associative Agnosia	23
797		FNG001	Finger Agnosia	23
798		CTF001	Catifa Syndrome	23
799		AKN001	Akinetopsia	22
800	c	ALZ060	Alzheimer Disease 14	22
801		SXL002	Sexual Masochism	22
802	c	ALZ031	Alzheimer Disease 17	22
803	c	PRK106	Parkinsonism-Dystonia 2, Infantile-Onset	22
804	c	MCR383	Microcephaly 27, Primary, Autosomal Dominant	22
805	c	ZMM004	Zimmermann-Laband Syndrome 3	22
806		DLP001	Delpire-Mcneill Syndrome	21
807	c	RTS004	Ritscher-Schinzel Syndrome 3	21
808		PHN001	Phencyclidine Abuse	21
809	c	MSC139	Mosaic Variegated Aneuploidy Syndrome 3	21
810	c	SCH086	Schizophrenia 11	21
811		1Q4001	1q44 Microdeletion Syndrome	21
812		EDN001	Edinburgh Malformation Syndrome	20
813		MSC148	Musical Perfect Pitch	20
814	c	LKD037	Leukodystrophy, Hypomyelinating, 24	20
815	c	ATS377	Autism 16	20
816	c	FRM002	Form Agnosia	20
817	c	SPC027	Specific Language Impairment 1	19
818	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	19
819	c	SPC023	Specific Language Impairment 5	19
820		ATT001	Autotopagnosia	18
821		BRD027	Braddock Jones Superneau Syndrome	18
822	c	HVP001	Hivep2-Related Intellectual Disability	18
823		CNG607	Congenital Disorder of Glycosylation, Type Icc	18
824	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	17
825		20P001	20p12.3 Microdeletion Syndrome	17
826		TPG001	Topographical Agnosia	17
827		AST004	Astereognosia	17
828		ADS003	Aids Phobia	16
829		BRB002	Barbiturate Dependence	16
830	c	SPC028	Specific Language Impairment 2	16
831	c	ATS177	Autism X-Linked 5	16
832		MXD002	Mixed Receptive-Expressive Language Disorder	16
833		CLT002	Cluttering	15
834	c	NNS090	Non-Syndromic X-Linked Intellectual Disability 82	14
835	c	ATS403	Autosomal Dominant Intellectual Disability 40	14
836		CLR009	Color Agnosia	14
837	P	LTN003	Late-Onset Familial Alzheimer Disease	14
838	c	ATS348	Autosomal Dominant Intellectual Disability 30	13
839	c	NNS080	Non-Syndromic X-Linked Intellectual Disability 89	13
840	c	ATS360	Autosomal Recessive Intellectual Disability 58	13
841	c	NNS077	Non-Syndromic X-Linked Intellectual Disability 14	13
842		INT031	Integrative Agnosia	12
843	c	RRS015	Rare Syndromic Intellectual Disability	12
844	c	SPC015	Specific Language Impairment 4	12
845		HLL002	Hallucinogen Abuse	11
846	c	SPC029	Specific Language Impairment 3	11
847	c	TSB001	T-Substance Anomaly	11
848		MRR002	Mirror Agnosia	11
849	c	NNS092	Non-Syndromic X-Linked Intellectual Disability 46	10
850	c	NNS084	Non-Syndromic X-Linked Intellectual Disability 77	10
851	P	RRN017	Rare Intellectual Disability	10
852	c	WCR002	Wac-Related Intellectual Disability	9
853	c	NNS078	Non-Syndromic X-Linked Intellectual Disability 45	9
854		PSY001	Psychologic Vaginismus	9
855	c	WDR002	Wdr26-Related Intellectual Disability	9
856	c	TRR002	Trio-Related Intellectual Disability	9
857	c	NNS075	Non-Syndromic X-Linked Intellectual Disability 20	8
858		PSY002	Psychologic Dyspareunia	7
859		SCL006	Social Emotional Agnosia	6
860		TMG001	Time Agnosia	5
861	c	DDX001	Ddx3x-Related Intellectual Disability	4
862		SMN003	Semantic Agnosia	4
863		ANT016	Antidepressant Type Abuse	4
864		SYN172	Syndromic X-Linked Intellectual Disorder Lujan-Fryns-Type	3
865	P	FRN044	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1	62
866	c	FRN059	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7	51
867	c	FRN043	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3	40
868	P	CRB185	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1	52
869		MSS001	Masa Syndrome	62
870	c	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	69
871	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
872	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	59
873	P	PLY180	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1	58
874	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	56
875	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	47
876	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	47
877	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	47
878	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	43
879	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	42
880	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	35
881	c	ATS273	Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy	7
882	P	ATS271	Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy	5
883	P	LKN033	Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1	63
884	c	LKN034	Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2	22
885		NRD118	Neurodevelopmental Disorder with or Without Autism or Seizures	24
886	P	NRD034	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant	30
887	P	CTS001	Cutis Laxa	57
888	c	CTS045	Cutis Laxa, Autosomal Dominant 1	57
889	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	52
890	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	48
891	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	47
892	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	47
893	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	47
894	c	ATS393	Autosomal Recessive Cutis Laxa Type I	46
895	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
896	c	CTS041	Cutis Laxa, Autosomal Dominant 3	42
897	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	39
898	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
899	c	ATP003	Atp6v0a2-Related Cutis Laxa	35
900	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
901	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
902	c	ACQ027	Acquired Cutis Laxa	20
903	c	LTB003	Ltbp4-Related Cutis Laxa	19
904	c	FBL003	Fbln5-Related Cutis Laxa	18
905	c	ELN002	Eln-Related Cutis Laxa	14
906	c	EFM001	Efemp2-Related Cutis Laxa	13
907		BCH004	Bachmann-Bupp Syndrome	36
908	c	DYS056	Dystonia 12	67
909	P	DYS154	Dystonia	66
910	c	DVL042	Developmental and Epileptic Encephalopathy 14	62
911		EPL258	Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development	61
912	c	DYS059	Dystonia 16	46
913	c	DYS119	Dystonia 9	43
914		GRN060	Grn-Related Frontotemporal Lobar Degeneration	43
915	c	FRN040	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2	39
916	c	DYS151	Dystonia 25	37
917		GLB024	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor	37
918	c	DYS146	Dystonia 24	36
919	c	DYS162	Dystonia, Juvenile-Onset	35
920	c	DYS145	Dystonia 23	33
921		DVL031	Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects	28
922		NRD101	Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly	27
923	c	DYS212	Dystonia 30	25
924		NRD085	Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures	24
925	c	DYS138	Dystonia 21	23
926	c	DYS216	Dystonia 32	23
927	c	DYS214	Dystonia 31	22
928	c	KMT002	Kmt2b-Related Dystonia	21
929	c	HRD198	Hereditary Dystonia	21
930	c	DYS223	Dystonia 28	21
931	c	RRD039	Rare Dystonia	9
932	P	PRN023	Prion Disease	59
933	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
934	P	AMY106	Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia	45
935		ALP094	Alpha Thalassemia-Intellectual Disability Syndrome Type 1	36
936		NRD091	Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures	29
937	c	CRB136	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	28
938	c	INH032	Inherited Human Prion Disease	25
939	c	CRB195	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3	24
940	c	CRB141	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4	24
941		NRD145	Neurodevelopmental Disorder, Nonprogressive, with Spasticity and Transient Opisthotonus	23
942		ALP091	Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	19
943	c	ACQ069	Acquired Human Prion Disease	10
944	c	SPR154	Sporadic Human Prion Disease	10
945		KFR001	Kufor-Rakeb Syndrome	60
946		CRB151	Cerebral Creatine Deficiency Syndrome 1	56
947	c	CHR630	Chorea, Benign Hereditary	42
948	c	DVL062	Developmental and Epileptic Encephalopathy 35	42
949		MNT252	Mental Retardation, Skeletal Dysplasia, and Abducens Palsy	38
950		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	32
951		NRD031	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination	25
952	P	CHR636	Chorea, Benign Familial	12
953		MNT257	Mental Retardation, X-Linked, with Craniofacial Dysmorphism	11
954		ALX003	Alexander Disease	63
955		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	49
956		NRD102	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities	35
957		NRD038	Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	34
958		NRP071	Neuropathy, Hereditary Sensory and Autonomic, Type Ix, with Developmental Delay	33
959		NRD129	Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties	32
960		NRD057	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	30
961	c	FCL091	Focal Segmental Glomerulosclerosis 10	30
962	P	OBS015	Obesity, Hyperphagia, and Developmental Delay	25
963		NRD067	Neurodevelopmental Disorder with or Without Variable Brain Abnormalities	25
964		NRD107	Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia	25
965		NRD105	Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities	24
966		NRD040	Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter	23
967	c	NRD041	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive	23
968		NRD112	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities	23
969		INT391	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	22
970		NRD113	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities	21
971		NRD095	Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities	21
972		SBN004	Sabinas Brittle Hair Syndrome	16
973		INS024	Insulin-Like Growth Factor I	77
974	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	52
975	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	49
976	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	48
977		AND001	Anodontia	46
978	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	46
979	P	HYP888	Hyperphosphatasia with Impaired Intellectual Development Syndrome 1	41
980	P	GLY112	Glycosylphosphatidylinositol Biosynthesis Defect 1	39
981		SMT020	Smith-Kingsmore Syndrome	39
982		KHR001	Kahrizi Syndrome	34
983		NRD036	Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures	33
984	c	HYP891	Hyperphosphatasia with Impaired Intellectual Development Syndrome 4	30
985	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	28
986		IMP020	Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects	28
987		NRD023	Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language	27
988	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	27
989		NRD054	Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures	27
990		NRD049	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures	26
991	c	HYP889	Hyperphosphatasia with Impaired Intellectual Development Syndrome 3	26
992	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	23
993	c	ALP114	Alopecia-Intellectual Disability Syndrome 2	18
994		PCH018	Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts	15
995		ACR008	Acrocallosal Syndrome	67
996	P	ANG001	Angelman Syndrome	64
997		PRR007	Perry Syndrome	52
998	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	45
999		TMT003	Temtamy Syndrome	40
1000		PNT009	Pontine Tegmental Cap Dysplasia	34
1001		NRD026	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies	32
1002		NRD108	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities	32
1003		RNL120	Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation	30
1004		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	25
1005		CLB035	Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Impaired Intellectual Development	24
1006		LBN005	Lubani-Al Saleh-Teebi Syndrome	22
1007		BLP044	Blepharophimosis with Facial and Genital Anomalies and Mental Retardation	22
1008	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	21
1009	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	20
1010		ICH068	Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment	20
1011	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	18
1012		WLF012	Wolff Mental Retardation Syndrome	18
1013	P	MNT312	Mental Health Wellness 1	18
1014		PTR031	Pterygium Colli and Mental Retardation with Facial and Digital Anomalies	18
1015		MNT311	Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration	17
1016	c	PPP004	Ppp2r1a-Related Neurodevelopmental Disorder	16
1017		KFF001	Kifafa Seizure Disorder	15
1018	c	ANG058	Angelman Syndrome Due to a Point Mutation	15
1019		RDL014	Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation	15
1020		HLL013	Hall-Riggs Mental Retardation Syndrome	14
1021		CRN293	Craniosynostosis-Mental Retardation-Clefting Syndrome	13
1022		CTR173	Cataract, Ataxia, Short Stature, and Mental Retardation	12
1023		SCH022	Schimke X-Linked Mental Retardation Syndrome	12
1024		MGR041	Megarbane-Jalkh Syndrome	11
1025		LMB066	Limb Defects, Distal Transverse, with Mental Retardation and Spasticity	11
1026	c	MNT313	Mental Health Wellness 2	11
1027		ULN022	Ulnar Hypoplasia with Mental Retardation	10
1028		PTR032	Peters-Plus Syndrome	65
1029	P	MCR010	Microcephaly	59
1030		MNK003	Muenke Syndrome	59
1031	c	PRM031	Primary Autosomal Recessive Microcephaly	51
1032		NCL006	Nicolaides-Baraitser Syndrome	50
1033	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	45
1034	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	43
1035	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	41
1036		ADS004	Aids Dementia Complex	41
1037	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	40
1038	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	40
1039	c	PRM212	Primary Microcephaly	39
1040		NRD029	Neurodevelopmental Disorder with Involuntary Movements	39
1041	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	38
1042		MLT178	Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	38
1043	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	38
1044	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	37
1045	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	37
1046	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	37
1047	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	36
1048	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	36
1049	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	35
1050	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	33
1051	P	TSS006	Tessadori-Van Haaften Neurodevelopmental Syndrome 1	32
1052		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	32
1053		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	31
1054		GTD002	Gatad2b-Associated Neurodevelopmental Disorder	31
1055		DVL122	Developmental Delay, Impaired Speech, and Behavioral Abnormalities	29
1056	P	ALP116	Alopecia-Intellectual Disability Syndrome 4	29
1057		DVL111	Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy	28
1058		NRD081	Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies	27
1059	P	NRD134	Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies	27
1060		NRD096	Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures	26
1061	c	DBT106	Diabetes Mellitus, Permanent Neonatal, 3	26
1062	c	MCR382	Microcephaly 26, Primary, Autosomal Dominant	25
1063		NRD094	Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation	25
1064		NRD115	Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities	25
1065		NRD099	Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity	25
1066		NRD088	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity	25
1067	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	25
1068		MRB008	Marbach-Schaaf Neurodevelopmental Syndrome	24
1069		NRD092	Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis	24
1070		NRD061	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities	24
1071		NRD116	Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy	24
1072		LKN030	Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome	24
1073		NRD135	Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities	24
1074	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	24
1075		CHL189	Chilton-Okur-Chung Neurodevelopmental Syndrome	24
1076		NRD062	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	24
1077		HTT003	Hiatt-Neu-Cooper Neurodevelopmental Syndrome	23
1078		NRD140	Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures	23
1079	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	23
1080		NRD119	Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism	23
1081		INT368	Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities	23
1082		NRD044	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features	23
1083		ILL003	Illum Syndrome	23
1084		INT568	Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly	22
1085		NRD131	Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum	22
1086		NRD123	Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia	22
1087	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	22
1088		HNG004	Hengel-Maroofian-Schols Syndrome	21
1089		NRD122	Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia	21
1090		NRD042	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	21
1091	c	NRD152	Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies	21
1092	c	MCR372	Microcephaly 25, Primary, Autosomal Recessive	21
1093		NRD136	Neurodevelopmental Disorder with Seizures and Brain Abnormalities	20
1094		NRD126	Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction	20
1095	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	20
1096		NRD127	Neurodevelopmental Disorder with Infantile Epileptic Spasms	19
1097		NRD146	Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis	19
1098		NRD111	Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy	19
1099	c	MCR368	Microcephaly 24, Primary, Autosomal Recessive	19
1100		NRD110	Neurodevelopmental Disorder with Seizures and Brain Atrophy	19
1101	c	MCR391	Microcephaly 29, Primary, Autosomal Recessive	19
1102	c	MCR386	Microcephaly 28, Primary, Autosomal Recessive	18
1103	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	69
1104	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
1105	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	64
1106	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	61
1107	c	BSL024	Basal Cell Carcinoma 1	59
1108	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	59
1109	c	RBN021	Rubinstein-Taybi Syndrome 1	57
1110	P	WRB002	Warburg Micro Syndrome 1	56
1111	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	56
1112	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	56
1113		TRD006	Tardive Dyskinesia	53
1114	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	52
1115	P	NRD007	Neurodegeneration with Brain Iron Accumulation	52
1116		IMM166	Immunodeficiency 27a	52
1117	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
1118	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
1119		PLY117	Polymicrogyria, Bilateral Frontoparietal	50
1120	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
1121	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	49
1122	c	CNG199	Congenital Disorder of Glycosylation, Type Im	49
1123	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	49
1124	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
1125		CMB026	Combined Oxidative Phosphorylation Deficiency 12	48
1126	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	48
1127	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	47
1128	c	PSD106	Pseudo-Torch Syndrome 1	47
1129	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	47
1130	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
1131	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	46
1132	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
1133	c	HNT010	Huntington Disease-Like 1	46
1134	P	SML001	Small Cell Carcinoma	46
1135	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
1136	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	45
1137	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
1138	c	LRG001	Large Cell Carcinoma	45
1139	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	45
1140	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	45
1141	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	45
1142	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
1143	c	WRB004	Warburg Micro Syndrome 3	43
1144	c	WRB003	Warburg Micro Syndrome 2	43
1145	c	CNG198	Congenital Disorder of Glycosylation, Type Il	42
1146	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	42
1147	c	CNG379	Congenital Disorder of Glycosylation, Type It	42
1148	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	42
1149		IMM186	Immunodeficiency 27b	42
1150	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
1151	c	LKD015	Leukodystrophy, Hypomyelinating, 3	41
1152	c	CNG195	Congenital Disorder of Glycosylation, Type Id	41
1153	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	40
1154	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	40
1155	c	WRB005	Warburg Micro Syndrome 4	39
1156		VLP002	Valproate Embryopathy	38
1157		TMP019	Temporomandibular Joint Anomaly	38
1158	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
1159	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	36
1160	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
1161	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
1162		MCR025	Microhydranencephaly	35
1163	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
1164		TBS001	Tabes Dorsalis	32
1165	P	TRC034	Torch Syndrome	32
1166	c	PSD107	Pseudo-Torch Syndrome 2	31
1167		SPN368	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	29
1168		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	29
1169		NRD156	Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies	28
1170	c	CNG626	Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive	27
1171	c	BSL011	Basal Cell Carcinoma, Multiple	26
1172	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
1173		NRD077	Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies	26
1174		GZP006	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development	25
1175		BRC097	Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation	25
1176	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
1177		NRD138	Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures	24
1178	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	24
1179	c	PSD121	Pseudo-Torch Syndrome 3	24
1180		NRD093	Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy	24
1181		IMM188	Immunodeficiency, Developmental Delay, and Hypohomocysteinemia	23
1182		NRD089	Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies	23
1183		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	23
1184		ALL014	Allergic Encephalomyelitis	23
1185	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
1186		NRD079	Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies	23
1187		INT362	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies	22
1188		DNT053	Dentici-Novelli Neurodevelopmental Syndrome	22
1189		NRD035	Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures	22
1190		PRN072	Parenti-Mignot Neurodevelopmental Syndrome	22
1191	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	22
1192		GLB029	Global Developmental Delay with Speech and Behavioral Abnormalities	22
1193	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	21
1194		SGM010	Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	21
1195		NRD166	Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities	21
1196		NRD162	Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies	21
1197		NRD078	Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity	21
1198		DVL130	Developmental Delay with Variable Neurologic and Brain Abnormalities	21
1199	c	BSL034	Basal Cell Carcinoma 7	21
1200		NRD070	Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies	20
1201		MCR370	Macrocephaly, Acquired, with Impaired Intellectual Development	20
1202		NRD076	Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly	20
1203		INT346	Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies	20
1204		NRD159	Neurodevelopmental Disorder with Dystonia and Seizures	20
1205		DWR024	Dworschak-Punetha Neurodevelopmental Syndrome	19
1206		NRD160	Neurodevelopmental Disorder with Epilepsy and Brain Atrophy	19
1207	P	RBN007	Rubinstein Taybi Like Syndrome	19
1208		NRD164	Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities	19
1209		RTN207	Retinopathy, Pigmentary, and Mental Retardation	19
1210		OST181	Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay	18
1211		NRD158	Neurodevelopmental Disorder with Language Delay and Seizures	18
1212		NRD163	Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies	18
1213		INT390	Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies	18
1214		NRD161	Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy	18
1215		DVL138	Developmental Delay, Impaired Speech, and Behavioral Abnormalities, with or Without Seizures	18
1216		CLB031	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	18
1217		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	17
1218		NRD174	Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly	17
1219	c	ALP115	Alopecia-Intellectual Disability Syndrome 3	16
1220	c	BSL026	Basal Cell Carcinoma 3	16
1221	c	BSL025	Basal Cell Carcinoma 2	15
1222	c	BSL028	Basal Cell Carcinoma 5	15
1223		VSC048	Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	15
1224	c	BSL029	Basal Cell Carcinoma 6	14
1225		NRD179	Neurodevelopmental Disorder with Speech Impairment and with or Without Seizures	14
1226		FBL015	Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	14
1227	c	BSL027	Basal Cell Carcinoma 4	13
1228		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	13
1229		OBS068	Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	11
1230	c	CNG628	Congenital Disorder of Glycosylation Iw	9
1231		SPN387	Spinal Muscular Atrophy, Segmental	8
1232	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
1233		CNG533	Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome	7
1234	P	DSR041	Disorder of Multiple Glycosylation	6
1235		GRW022	Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome	6
1236		NRX005	Nrxn1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance	4
1237		FBX004	Fbxw7 Neurodevelopmental Syndrome	3
1238	P	ENC018	Encephalopathy	64
1239	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	63
1240	P	CTR002	Cataract	60
1241	c	HRD202	Hereditary Lymphedema I	60
1242		BRN045	Brunner Syndrome	59
1243	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	59
1244		LG4001	Lig4 Syndrome	57
1245		MCR013	Microphthalmia	57
1246	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	56
1247		SLC006	Silicosis	55
1248	c	CRD259	Ceroid Lipofuscinosis, Neuronal, 6a	55
1249		MYC080	Myoclonic Epilepsy of Unverricht and Lundborg	55
1250	P	BND018	Band Heterotopia	55
1251		RSP019	Respiratory Distress Syndrome in Premature Infants	54
1252		CLL036	Culler-Jones Syndrome	53
1253	P	MRT010	Martsolf Syndrome 1	53
1254		VLC001	Velocardiofacial Syndrome	52
1255	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	52
1256	P	RST001	Restless Legs Syndrome	51
1257		TMT002	Temtamy Preaxial Brachydactyly Syndrome	51
1258	c	PRK085	Parkinson Disease 1, Autosomal Dominant	51
1259		HMC001	Homocarnosinosis	49
1260		NNN022	Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia	49
1261		VTR010	Vitreoretinochoroidopathy	48
1262		NRS003	Neurosyphilis	48
1263		BSL009	Basal Ganglia Calcification	47
1264	c	CTR103	Cataract 4, Multiple Types	47
1265		MLT084	Multicystic Dysplastic Kidney	47
1266	c	CTR098	Cataract 1, Multiple Types	47
1267	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	47
1268	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	47
1269		CDS002	Codas Syndrome	47
1270		NNS045	Non-Specific Syndromic Intellectual Disability	46
1271	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	46
1272	c	CTR182	Cataract 23, Multiple Types	44
1273	c	CTR096	Cataract 6, Multiple Types	44
1274		IMM180	Immunodeficiency 28	44
1275		CKS001	Ck Syndrome	44
1276		BSC005	Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	44
1277	c	CTR130	Cataract 9, Multiple Types	43
1278	c	CRD258	Ceroid Lipofuscinosis, Neuronal, 6b	43
1279	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	43
1280	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	43
1281	c	CRD257	Ceroid Lipofuscinosis, Neuronal, 4	42
1282		WTT002	Witteveen-Kolk Syndrome	42
1283	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	41
1284		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	41
1285		NRN008	Neuronal Intranuclear Inclusion Disease	41
1286		CLF050	Cleft Palate, Cardiac Defects, and Mental Retardation	40
1287	P	PRM327	Primary Lymphedema	40
1288	c	CTR118	Cataract 14, Multiple Types	40
1289		JWD001	Jawad Syndrome	40
1290	c	CTR125	Cataract 7	39
1291	c	CTR132	Cataract 3, Multiple Types	39
1292	c	CTR115	Cataract 16, Multiple Types	39
1293	c	CTR170	Cataract 30, Multiple Types	39
1294	c	CTR174	Cataract 40	38
1295	c	HRD206	Hereditary Lymphedema Ii	38
1296		AGN018	Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome	38
1297	c	CTR113	Cataract 11, Multiple Types	38
1298	c	HRD007	Hereditary Lymphedema	38
1299	c	CTR145	Cataract 44	37
1300		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	36
1301	c	CTR129	Cataract 31, Multiple Types	36
1302	c	CTR181	Cataract 18	35
1303		ART173	Arthrogryposis, Impaired Intellectual Development, and Seizures	35
1304	c	CTR122	Cataract 5, Multiple Types	34
1305	c	CTR183	Cataract 38	34
1306	c	RST012	Restless Legs Syndrome 1	34
1307	c	CTR095	Cataract 8, Multiple Types	34
1308	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	33
1309	c	CNG439	Congenital Lymphedema	33
1310		CMB078	Combined Oxidative Phosphorylation Deficiency 32	33
1311		KNS007	Kinsship Syndrome	33
1312	c	CTR102	Cataract 2, Multiple Types	33
1313		SKR001	Skraban-Deardorff Syndrome	33
1314	c	CTR131	Cataract 17, Multiple Types	32
1315	c	CTR187	Cataract 48	32
1316	c	CTR111	Cataract 36	32
1317	c	CTR185	Cataract 30	32
1318		LSS040	Lissencephaly 9 with Complex Brainstem Malformation	32
1319		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	31
1320	c	CTR124	Cataract 10, Multiple Types	31
1321	c	PNT059	Pontocerebellar Hypoplasia, Type 16	31
1322	c	NPH115	Nephrotic Syndrome, Type 23	31
1323		HRT037	Heart and Brain Malformation Syndrome	31
1324	c	CTR175	Cataract 24	30
1325		SPS190	Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly	30
1326	c	CTR119	Cataract 32, Multiple Types	30
1327	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	29
1328	c	CTR141	Cataract 21, Multiple Types	29
1329	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	29
1330	c	CTR180	Cataract 22, Multiple Types	27
1331	c	SPN451	Spinocerebellar Ataxia, Autosomal Recessive 29	27
1332		SPN424	Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits	27
1333	c	CTR116	Cataract 15, Multiple Types	26
1334	c	RST020	Restless Legs Syndrome 6	26
1335	c	NPH096	Nephrotic Syndrome, Type 12	26
1336	c	CTR105	Cataract 12, Multiple Types	26
1337		CHR457	Chromosome 17p13.1 Deletion Syndrome	26
1338		SHK002	Shukla-Vernon Syndrome	26
1339	c	CTR166	Cataract 33, Multiple Types	26
1340	c	CTR121	Cataract 25	26
1341	c	CTR097	Cataract 34, Multiple Types	26
1342		CHR722	Chromosome Xq25 Duplication Syndrome	25
1343		WLM019	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	24
1344	c	CTR169	Cataract 29	24
1345	c	HRD204	Hereditary Lymphedema Ia	24
1346	c	CTR165	Cataract 19, Multiple Types	24
1347	c	CTR162	Cataract 47	23
1348	c	CTR136	Cataract 41	23
1349	c	CTR157	Cataract 28	23
1350	P	HYP893	Hypomagnesemia, Seizures, and Impaired Intellectual Development 2	23
1351		ZCH002	Zechi-Ceide Syndrome	23
1352		BSL042	Basilar Impression, Primary	23
1353	c	CTR158	Cataract 37	23
1354	c	HYP892	Hypomagnesemia, Seizures, and Impaired Intellectual Development 1	23
1355	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	23
1356	c	SPN452	Spinocerebellar Ataxia, Autosomal Recessive 30	23
1357	c	HRD100	Hereditary Lymphedema Ic	23
1358	c	NPH093	Nephrotic Syndrome, Type 13	22
1359	c	MRT011	Martsolf Syndrome 2	22
1360	c	CTR184	Cataract 39, Multiple Types	22
1361	c	CTR106	Cataract 20, Multiple Types	22
1362		DRM023	Dermoodontodysplasia	22
1363	c	CTR110	Cataract 26, Multiple Types	22
1364	c	CTR160	Cataract 45	21
1365	c	PNT058	Pontocerebellar Hypoplasia, Type 1f	21
1366	c	CTR144	Cataract 43	21
1367	c	CTR178	Cataract 27	21
1368	c	CTR128	Cataract 33	20
1369	c	CTR159	Cataract 35	20
1370	c	CTR139	Cataract 42	20
1371		FLL034	Fallot Complex with Severe Mental and Growth Retardation	20
1372		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	20
1373		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	18
1374	c	CTR190	Cataract 49	18
1375		NRD055	Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum	18
1376		LKM069	Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	18
1377		INT286	Intellectual Disability-Spasticity-Ectrodactyly Syndrome	18
1378		CBT003	Cubitus Valgus with Impaired Intellectual Development and Unusual Facies	18
1379		ALP090	Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism	18
1380		ICH080	Ichthyosis Alopecia Eclabion Ectropion Intellectual Disability	18
1381	c	RRP002	Rare Pervasive Developmental Disorder	17
1382		XLN197	X-Linked Intellectual Disability-Plagiocephaly Syndrome	17
1383		MNT315	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism	16
1384		SPS218	Spastic Diplegia and Mental Retardation	15
1385		CTS046	Cutis Verticis Gyrata and Mental Retardation	15
1386		MDF004	Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia	15
1387		CRN103	Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig	14
1388	c	RST016	Restless Legs Syndrome 7	14
1389		SPS193	Spastic Paraplegia, Epilepsy, and Mental Retardation	14
1390		CRM012	Cree Mental Retardation Syndrome	14
1391	c	RST014	Restless Legs Syndrome 3	14
1392	c	RST013	Restless Legs Syndrome 2	13
1393		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	13
1394	c	HRD203	Hereditary Lymphedema Id	13
1395	c	GJC002	Gjc2-Related Late-Onset Primary Lymphedema	12
1396		MNT030	Mental Retardation Syndrome, Belgian Type	12
1397		MYT024	Myotonia with Skeletal Abnormalities and Mental Retardation	12
1398	c	RST015	Restless Legs Syndrome 4	12
1399		CHR580	Choroid Plexus Calcification and Mental Retardation	12
1400		CTR179	Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy	12
1401	c	STX006	Stxbp1-Related Encephalopathy	11
1402		MNT255	Mental Retardation and Psoriasis	11
1403		FCL076	Facial Abnormalities, Kyphoscoliosis, and Mental Retardation	11
1404	c	RST021	Restless Legs Syndrome 5	11
1405		MND028	Mandibulofacial Dysostosis with Mental Retardation	11
1406		SCR041	Sucrosuria, Hiatus Hernia and Mental Retardation	11
1407		FNC068	Functional Neurologic Disorder	10
1408	c	RST019	Restless Legs Syndrome 8	10
1409		MRF017	Marfanoid Mental Retardation Syndrome, Autosomal	10
1410		TCP003	Tecpr2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability	10
1411		VTL010	Vitiligo, Progressive, with Mental Retardation and Urethral Duplication	10
1412	c	DDX004	Ddx3x-Related Neurodevelopmental Disorder	10
1413		THR039	Thrombocytopenia Robin Sequence	10
1414		MNT299	Mental and Growth Retardation with Amblyopia	10
1415		C9R003	C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis	10
1416	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	9
1417		SPS217	Spastic Paraplegia, Optic Atrophy, and Dementia	9
1418		CHD011	Chd8-Related Neurodevelopmental Disorder with Overgrowth	9
1419		EBF001	Ebf3 Neurodevelopmental Disorder	9
1420		STD002	Setd2 Neurodevelopmental Disorders	9
1421		CHD008	Chd4 Neurodevelopmental Disorder	9
1422		MNT250	Mental Retardation with Spastic Paraplegia	8
1423		HRD179	Hair Defect-Photosensitivity-Intellectual Disability Syndrome	7
1424		SPN453	Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability	7
1425	c	CLC065	Clcn4-Related Neurodevelopmental Disorder	7
1426		CTS013	Cutis Verticis Gyrata Mental Deficiency	6
1427	c	HRD205	Hereditary Lymphedema Ib	6
1428	c	CLS057	Celsr1-Related Late-Onset Primary Lymphedema	6
1429		BGT001	Bagatelle Cassidy Syndrome	6
1430		SHR110	Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting	6
1431		MCR344	Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation	6
1432	c	CTR008	Cataract Congenital Autosomal Dominant	5
1433	c	ERL064	Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome	5
1434		ANM047	Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome	5
1435		RRD017	Rare Developmental Defect with Connective Tissue Involvement	5
1436		CNT053	Cantu Sanchez-Corona Fragoso Syndrome	5
1437		CCN014	Ccnk-Related Neurodevelopmental Disorder-Severe Intellectual Disability-Facial Dysmorphism Syndrome	4
1438		DVL025	Developmental Anomaly of Metabolic Origin	4
1439		DVL133	Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome	4
1440		SLC043	Slc12a2-Related Autosomal Recessive Neonatal-Developmental Delay-Intellectual Disability-Feeding Difficulty-Sensorineural Deafness Syndrome	4
1441	c	FML049	Familial Band Heterotopia	4
1442		STR110	Structural Developmental Eye Defect of Genetic Origin	3
1443		RRC034	Rare Cerebrovascular Dementia	3
1444		MTB017	Metabolic Disease with Dementia	3
1445		GNT109	Genetic Frontotemporal Degeneration with Dementia	3
1446		GNT110	Genetic Neurodegenerative Disease with Dementia	3
1447		NDM001	Nedamss Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures	1
1448	P	HRT032	Heart Disease	80
1449	P	RTT002	Rett Syndrome	78
1450	P	NNN008	Noonan Syndrome 1	76
1451	P	ATS364	Autism	74
1452	P	LVR013	Liver Disease	71
1453	c	ATS007	Autism Spectrum Disorder	70
1454	P	SLP006	Sleep Apnea	69
1455		DMN031	Dementia, Lewy Body	68
1456		ORT004	Orthostatic Intolerance	64
1457		MDD011	Mood Disorder	61
1458		ANR007	Anorexia Nervosa	61
1459		CHR066	Chronic Fatigue Syndrome	58
1460	P	BPL003	Bipolar Disorder	57
1461		NRT001	Neurotic Disorder	57
1462	c	ACT134	Acute Liver Failure	57
1463	P	LRS001	Larsen Syndrome	56
1464		DYS009	Dysthymic Disorder	54
1465		SCH003	Schizophreniform Disorder	54
1466		END040	Endogenous Depression	53
1467	c	CRN278	Craniosynostosis 1	53
1468		OPP004	Oppositional Defiant Disorder	53
1469	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	53
1470		SPC010	Speech and Communication Disorders	53
1471		BRD004	Borderline Personality Disorder	52
1472	P	TBH003	Teebi Hypertelorism Syndrome 1	52
1473	P	VND002	Van Der Woude Syndrome	52
1474	c	NNN010	Noonan Syndrome 3	52
1475		BRX001	Bruxism	51
1476		SCH012	Schizoaffective Disorder	50
1477		PST021	Postpartum Depression	50
1478		CND002	Conduct Disorder	49
1479		NNT033	Neonatal Hypoxic and Ischemic Brain Injury	48
1480		SCL003	Social Phobia	48
1481	c	BPL002	Bipolar I Disorder	47
1482	c	CRN134	Cornelia De Lange Syndrome 2	47
1483		CCN001	Cocaine Dependence	47
1484	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	47
1485		RMS001	Rem Sleep Behavior Disorder	46
1486		PRN009	Paranoid Schizophrenia	46
1487		IMP006	Impulse Control Disorder	46
1488		ANT011	Antisocial Personality Disorder	46
1489		BRN005	Brain Glioblastoma Multiforme	46
1490		AVD001	Avoidant Personality Disorder	45
1491	c	TRC100	Trichothiodystrophy 3, Photosensitive	45
1492	c	INF145	Infantile Liver Failure Syndrome 1	45
1493	P	CRN321	Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects	45
1494		LRN003	Learning Disability	45
1495		RNP003	Renpenning Syndrome 1	45
1496		DLS001	Delusional Disorder	45
1497		RDN001	Reading Disorder	44
1498		AGR002	Agoraphobia	44
1499	c	NNN009	Noonan Syndrome 2	44
1500		DSS010	Dissociative Disorder	43
1501	P	MJR007	Major Affective Disorder 1	43
1502	c	CRN320	Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects	43
1503		PHB001	Phobic Disorder	43
1504	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	42
1505		OBS003	Obsessive-Compulsive Personality Disorder	42
1506	c	FTL006	Fetal Alcohol Spectrum Disorder	42
1507	c	NNN012	Noonan Syndrome 5	42
1508	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	42
1509	c	CNT015	Central Sleep Apnea	41
1510	c	CNG404	Congenital Heart Defects, Multiple Types, 4	41
1511		ALP112	Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria	41
1512		INT025	Intermittent Explosive Disorder	41
1513		CYC005	Cyclothymic Disorder	41
1514	c	NNN021	Noonan Syndrome 8	40
1515	P	DYS005	Dyslexia	40
1516	c	CRN209	Cornelia De Lange Syndrome 5	40
1517		SPR012	Separation Anxiety Disorder	40
1518	c	NNN011	Noonan Syndrome 4	40
1519		DPR002	Depersonalization Disorder	40
1520	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	40
1521	c	LVR030	Liver Failure, Infantile, Transient	40
1522		NPH039	Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities	40
1523		IDM001	Ideomotor Apraxia	40
1524		BDY001	Body Dysmorphic Disorder	40
1525	c	CFF011	Coffin-Siris Syndrome 6	39
1526		SCH011	Schizotypal Personality Disorder	39
1527	c	VND007	Van Der Woude Syndrome 1	39
1528		RTN231	Retinal Dystrophy with Leukodystrophy	38
1529	c	NNN020	Noonan Syndrome 7	38
1530		CLB009	Coloboma of Iris	38
1531		DRG001	Drug Psychosis	38
1532		CNR033	Cone-Rod Synaptic Disorder, Congenital Nonprogressive	38
1533	P	HYP263	Hypersomnia	37
1534		ANT019	Anterograde Amnesia	37
1535		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	37
1536		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	37
1537	c	NNN025	Noonan Syndrome 10	36
1538		VSL003	Visual Agnosia	36
1539	c	NGH029	Night Blindness, Congenital Stationary, Type 1e	36
1540		RVR002	Reversible Cerebral Vasoconstriction Syndrome	36
1541		DYS004	Dyscalculia	36
1542		IMM056	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	36
1543	c	NNN013	Noonan Syndrome 6	36
1544	c	RTT008	Rett Syndrome, Congenital Variant	34
1545		ALC036	Alcohol-Related Birth Defects	34
1546	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	34
1547	P	SHR126	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2	34
1548	c	NNN024	Noonan Syndrome 9	33
1549	c	NNN034	Noonan Syndrome 12	33
1550		DYS003	Dysgraphia	33
1551	c	RNG008	Ring Chromosome 13	33
1552	c	SCH075	Schizophrenia 19	32
1553	c	CRN281	Craniosynostosis 7	32
1554		HYP530	Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity	32
1555	c	RCR002	Recurrent Hypersomnia	32
1556	c	SCH051	Schizophrenia 4	32
1557		CCN009	Cocaine Intoxication	32
1558	c	INF194	Infantile Liver Failure Syndrome	31
1559	c	NNN036	Noonan Syndrome 13	31
1560	P	ART169	Arthrogryposis Multiplex Congenita 6	31
1561		HYP711	Hypotonia, Ataxia, and Delayed Development Syndrome	31
1562	c	MLT010	Multiple Personality Disorder	31
1563		CRN266	Craniofacial Dyssynostosis with Short Stature	31
1564		ATY012	Atypical Mycobacteriosis, Familial	31
1565	c	INF138	Infantile Liver Failure Syndrome 2	31
1566		CRT007	Cortical Deafness	31
1567	c	DNC007	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	30
1568	c	NNN029	Noonan Syndrome 11	30
1569		ANH003	Anhaptoglobinemia	30
1570	c	LRS002	Larsen-Like Syndrome	30
1571		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	29
1572		SPC003	Specific Developmental Disorder	29
1573	c	CNG520	Congenital Heart Defects, Multiple Types, 6	29
1574	c	ADV003	Advanced Sleep Phase Syndrome, Familial, 1	29
1575		MNT308	Mental Retardation with Optic Atrophy, Deafness, and Seizures	29
1576	c	SCH080	Schizophrenia 3	29
1577		ANK013	Ankyloblepharon Filiforme Adnatum and Cleft Palate	29
1578		CHR707	Chromosome 13q33-Q34 Deletion Syndrome	28
1579		EXH001	Exhibitionism	28
1580		CHR190	Chromosome 12p Duplication	28
1581		PRM183	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	28
1582	c	SCH064	Schizophrenia 10	28
1583	c	SYN064	Syndromic X-Linked Intellectual Disability	28
1584	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
1585		CNC001	Cancerophobia	28
1586		OST168	Osteosclerotic Metaphyseal Dysplasia	28
1587		RTN174	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome	28
1588	c	SCH061	Schizophrenia 16	28
1589	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	28
1590	c	DYS121	Dyslexia 1	28
1591		NRD059	Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy	28
1592	c	CRN221	Craniosynostosis 4	28
1593		PLY183	Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome	28
1594	c	SCH053	Schizophrenia 13	27
1595	c	ART167	Arthrogryposis Multiplex Congenita 5	27
1596		CMB002	Combat Disorder	27
1597	c	KHL004	Kohlschutter-Tonz Syndrome-Like	27
1598	c	CNG511	Congenital Heart Defects, Multiple Types, 2	26
1599	c	ADV007	Advanced Sleep Phase Syndrome, Familial, 2	26
1600		NRC003	Narcissistic Personality Disorder	26
1601		PRN010	Paranoid Personality Disorder	26
1602	c	RNG013	Ring Chromosome 18	26
1603		ELC001	Elective Mutism	26
1604	c	SCH084	Schizophrenia 8	26
1605		NZN001	Nizon-Isidor Syndrome	26
1606	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
1607		HST001	Histrionic Personality Disorder	26
1608		SCH004	Schizoid Personality Disorder	26
1609	c	CRN256	Craniosynostosis 6	25
1610		FCL046	Focal Facial Dermal Dysplasia 4	25
1611		DPN001	Dependent Personality Disorder	25
1612	c	LVR033	Liver Disease, Severe Congenital	25
1613	c	CNG521	Congenital Heart Defects, Multiple Types, 5	25
1614	c	NPH105	Nephrotic Syndrome, Type 17	25
1615	c	ATS370	Autism 3	25
1616		INT339	Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature	25
1617	P	CRD249	Cardioacrofacial Dysplasia 2	25
1618		RCH011	Rauch-Steindl Syndrome	25
1619	c	INF190	Infantile Liver Failure Syndrome 3	25
1620	c	SHR125	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1	25
1621		FND007	Faundes-Banka Syndrome	25
1622		MTC230	Mitochondrial Complex I Deficiency, Nuclear Type 36	25
1623		CHR416	Chromosome 17q Deletion	25
1624	c	DYS120	Dyslexia 2	25
1625		CRB227	Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects	25
1626		PRT001	Partial Fetal Alcohol Syndrome	24
1627	c	CRT089	Cortical Dysplasia, Complex, with Other Brain Malformations 10	24
1628	c	INT478	Intellectual Developmental Disorder, Autosomal Recessive 57	24
1629	c	NNN038	Noonan Syndrome 14	24
1630	c	TBH004	Teebi Hypertelorism Syndrome 2	24
1631	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	24
1632	c	SCH082	Schizophrenia 5	24
1633		BRT061	Buratti-Harel Syndrome	24
1634	c	CNG616	Congenital Heart Defects, Multiple Types, 7	24
1635		CMB115	Combined Oxidative Phosphorylation Deficiency 55	24
1636	c	EPL254	Epilepsy, Progressive Myoclonic, 11	23
1637	c	LKD035	Leukodystrophy, Hypomyelinating, 22	23
1638		INT584	Intellectual Developmental Disorder with Speech Delay and Dysmorphic Facies	23
1639	c	DYS219	Dystonia 33	23
1640		EXP001	Expressive Language Disorder	23
1641		KYB001	Kaya-Barakat-Masson Syndrome	23
1642	c	BMN004	Biemond Syndrome Ii	23
1643		OST179	Osteootohepatoenteric Syndrome	23
1644	c	SYN082	Syndromic X-Linked Intellectual Disability 14	23
1645	c	RNG021	Ring Chromosome 5	22
1646	c	ATS376	Autism 15	22
1647	c	ATS474	Autism 20	22
1648	c	ATS369	Autism 8	22
1649		LGH020	Li-Ghorbani-Weisz-Hubshman Syndrome	22
1650	c	TRC127	Trichothiodystrophy 8, Nonphotosensitive	22
1651		NRD154	Neurodegeneration, Childhood-Onset, with Progressive Microcephaly	22
1652	c	INT452	Intellectual Developmental Disorder, Autosomal Recessive 6	22
1653		BRN112	Brain Dopamine-Serotonin Vesicular Transport Disease	22
1654		SHR123	Short Stature and Microcephaly with Genital Anomalies	22
1655		TRK001	Triokinase and Fmn Cyclase Deficiency Syndrome	21
1656	c	ATS378	Autism 17	20
1657		MTC224	Mitochondrial Complex Iv Deficiency, Nuclear Type 17	20
1658	c	RNG014	Ring Chromosome 19	19
1659	c	INT512	Intellectual Developmental Disorder, Autosomal Recessive 4	19
1660		MTC228	Mitochondrial Complex Iv Deficiency, Nuclear Type 21	18
1661		PRC021	Parc Syndrome	18
1662	c	CRD248	Cardioacrofacial Dysplasia 1	18
1663		CLB008	Coloboma of Eye Lens	18
1664	P	HYP284	Hypospadias 1, X-Linked	18
1665	c	CNG385	Congenital Heart Defects, Multiple Types, 3	18
1666	P	BMN001	Biemond Syndrome	18
1667	c	ATS371	Autism 6	18
1668	c	NNS073	Non-Syndromic X-Linked Intellectual Disability 2	18
1669		9P1001	9p13 Microdeletion Syndrome	17
1670		MTC221	Mitochondrial Complex Iv Deficiency, Nuclear Type 14	17
1671		HYP687	Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy	17
1672		VRB001	Verbal Auditory Agnosia	17
1673	c	DYS125	Dyslexia 8	17
1674	c	NNS086	Non-Syndromic X-Linked Intellectual Disability 91	16
1675	c	ATS170	Autism 19	16
1676		PHN002	Phonagnosia	16
1677	c	HYP270	Hypospadias 2, X-Linked	16
1678	c	ATS372	Autism 7	16
1679		APP006	Apperceptive Agnosia	16
1680		CHR239	Chromosome 2q Deletion	16
1681		KSZ002	Kosztolanyi Syndrome	15
1682	c	ATS374	Autism 12	15
1683		LKD038	Leukodystrophy, Childhood-Onset, Remitting	15
1684	c	ATS171	Autism 9	15
1685	c	ATS172	Autism 10	15
1686	c	ATS373	Autism 11	14
1687	c	ATS375	Autism 13	14
1688		MDR001	Medeira-Dennis-Donnai Syndrome	14
1689	c	INT511	Intellectual Developmental Disorder, Autosomal Recessive 11	14
1690	c	ART171	Arthrogryposis Multiplex Congenita-3	14
1691	c	NNS085	Non-Syndromic X-Linked Intellectual Disability 90	13
1692	c	NNS076	Non-Syndromic X-Linked Intellectual Disability 58	13
1693	c	NNS094	Non-Syndromic X-Linked Intellectual Disability 72	13
1694	c	ART170	Arthrogryposis Multiplex Congenita-1	13
1695	c	DYS122	Dyslexia 3	13
1696	c	ART172	Arthrogryposis Multiplex Congenita-4	12
1697	c	NNS081	Non-Syndromic X-Linked Intellectual Disability 81	11
1698	c	DYS124	Dyslexia 6	11
1699		ORG003	Organic Mood Syndrome	11
1700	c	DYS123	Dyslexia 5	10
1701	c	DYS126	Dyslexia 9	10
1702	c	NNS074	Non-Syndromic X-Linked Intellectual Disability 19	9
1703		EGD001	Ego-Dystonic Sexual Orientation	8
1704	c	HYP653	Hypospadias 4, X-Linked	7
1705	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
1706	c	RRD010	Rare Disease with Autism	7
1707		VSL001	Visual Verbal Agnosia	6
1708	c	NNS079	Non-Syndromic X-Linked Intellectual Disability 84	6
1709	c	NNS091	Non-Syndromic X-Linked Intellectual Disability 88	6
1710	c	ATS531	Autosomal Recessive Intellectual Developmental Disorder 75	6
1711	c	ATS530	Autosomal Recessive Intellectual Developmental Disorder 34	5
1712	c	BPL001	Bipolar Ll Disorder	4
1713	c	CRN093	Craniosynostosis Autosomal Dominant	4
1714		FTL063	Fetal Nicotine Spectrum Disorder	3
1715		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	49
1716		ALP093	Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related	25
1717		ENC039	Encephalopathy, Familial, with Neuroserpin Inclusion Bodies	50
1718	P	HRD021	Hereditary Sensory Neuropathy	54
1719	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	54
1720	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	42
1721	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	41
1722		CNG495	Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay	37
1723	c	NRP036	Neuropathy, Hereditary Sensory, Type if	29
1724		CHR696	Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia	28
1725	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
1726		MNT318	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome	35
1727		CNG382	Congenital Cataracts, Hearing Loss, and Neurodegeneration	29
1728		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	27
1729	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	45
1730		OPT062	Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures	43
1731	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	41
1732	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	39
1733	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	38
1734	c	CHR697	Charcot-Marie-Tooth Disease X-Linked Recessive 4	37
1735		MMS001	Momo Syndrome	29
1736		DBT089	Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification	17
1737		RTN071	Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism	15
1738		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	59
1739		RYS001	Reye Syndrome	52
1740		BHR001	Behr Syndrome	41
1741		SQL002	Squalene Synthase Deficiency	29
1742		NRD073	Neurodevelopmental Disorder with Visual Defects and Brain Anomalies	24
1743		HLP033	Halperin-Birk Syndrome	23
1744		NRD104	Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities	23
1745		TLC002	Tolchin-Le Caignec Syndrome	22
1746	c	MCR256	Microphthalmia, Syndromic 9	68
1747		CNV004	Canavan Disease	65
1748	c	MCR241	Microphthalmia, Syndromic 3	59
1749		HPT019	Hepatic Encephalopathy	59
1750		INS001	Insulinoma	59
1751	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	58
1752	c	MCR261	Microphthalmia, Syndromic 2	52
1753	c	MCR263	Microphthalmia, Syndromic 1	51
1754	c	MCR251	Microphthalmia, Syndromic 6	50
1755		SCH018	Schizencephaly	48
1756	c	MCR245	Microphthalmia, Syndromic 8	46
1757	c	MCR252	Microphthalmia, Syndromic 5	43
1758	c	MCR212	Microphthalmia, Syndromic 12	42
1759	c	MCR312	Microphthalmia, Syndromic 10	40
1760		NVS015	Nevus Comedonicus	35
1761	P	SYN165	Syndromic Microphthalmia	34
1762	c	MCR228	Microphthalmia, Syndromic 13	33
1763	c	INC033	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2	30
1764	c	MCR392	Microphthalmia, Syndromic 16	30
1765	c	MCR217	Microphthalmia, Syndromic 11	23
1766		NRD170	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment	20
1767		OPT078	Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	17
1768		NRD175	Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects	16
1769		NRD173	Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities	16
1770	c	BSL007	Basal Cell Carcinoma	67
1771	P	FTL069	Fetal Akinesia Deformation Sequence 1	62
1772	P	FTL002	Fatal Familial Insomnia	56
1773	P	PLG001	Pelger-Huet Anomaly	52
1774		CRB069	Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome	52
1775		WRN002	Wernicke-Korsakoff Syndrome	51
1776		HGH044	High Grade Ependymoma	49
1777		NGL007	Ngly1-Deficiency	46
1778		INF129	Infantile Cerebellar-Retinal Degeneration	45
1779		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	43
1780		BRN134	Brain Malformations with or Without Urinary Tract Defects	41
1781		AMD002	Amed Syndrome, Digenic	40
1782		WST002	Western Equine Encephalitis	39
1783	c	SPN364	Spinocerebellar Ataxia, X-Linked 3	39
1784	c	CRN277	Craniosynostosis 2	38
1785	P	STR001	Striatonigral Degeneration	38
1786	c	FTL070	Fetal Akinesia Deformation Sequence 2	38
1787		CBL011	Cebalid Syndrome	37
1788	c	FTL072	Fetal Akinesia Deformation Sequence 4	36
1789	c	STR085	Striatonigral Degeneration, Infantile	35
1790		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	32
1791		STM015	Stomatin-Deficient Cryohydrocytosis with Neurologic Defects	31
1792	c	FTL071	Fetal Akinesia Deformation Sequence 3	31
1793		WYB002	Wyburn-Mason Syndrome	30
1794		MNT118	Mental Retardation, Anterior Maxillary Protrusion, and Strabismus	28
1795		CHR713	Chromosome Xq21 Deletion Syndrome	27
1796		NRD051	Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness	27
1797		SCP013	Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development	27
1798		NRP046	Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers	24
1799		8P2002	8p23.1 Duplication Syndrome	24
1800		RDL026	Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	23
1801		GGN006	Gigantiform Cementoma, Familial	21
1802		SND006	Sonoda Syndrome	21
1803	c	OST149	Osteolysis Syndrome, Recessive	19
1804		MTP027	Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	19
1805		CYS040	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation	18
1806		ARL006	Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation	18
1807		HST012	Histidinuria Renal Tubular Defect	17
1808		NRD172	Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss	15
1809	c	BCL018	Bcl11a-Related Intellectual Disability	15
1810	c	SPR166	Sporadic Fatal Insomnia	15
1811		ECT104	Ectodermal Dysplasia with Mental Retardation and Syndactyly	14
1812		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	13
1813		EHL082	Ehlers-Danlos Syndrome, Beasley-Cohen Type	13
1814		RNL121	Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies	13
1815		EPD032	Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation	12
1816		NPH050	Nephropathy, Progressive, with Deafness	12
1817		SPN396	Spinal Muscular Atrophy with Mental Retardation	12
1818		RRR001	Rere-Related Disorders	12
1819	c	PSD024	Pseudo Pelger-Huet Anomaly	11
1820		PRN067	Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness	10
1821		ICH027	Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin	9
1822	P	PRM337	Primary Osteolysis	9
1823		SPT025	Sptbn4 Disorder	9
1824		RRG014	Rare Genetic Developmental Defect During Embryogenesis	7
1825		EMP013	Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation	5
1826		DSL004	Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation	5
1827		PRG135	Progressive Dementia with Neuroserpin Inclusion Bodies	5
1828		KZN001	Kuzniecky Andermann Syndrome	4
1829		RRD016	Rare Developmental Defect with Skin/mucosae Involvement	4
1830	P	MJR001	Major Depressive Disorder	75
1831		BRN028	Brain Cancer	75
1832	P	JBR020	Joubert Syndrome 1	72
1833	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	69
1834		PSY004	Psychotic Disorder	69
1835		APN008	Apnea, Obstructive Sleep	68
1836		OBS002	Obsessive-Compulsive Disorder	67
1837		ALC007	Alcohol Dependence	65
1838	c	ART144	Arthrogryposis, Distal, Type 1a	65
1839	c	PRX045	Peroxisome Biogenesis Disorder 1b	65
1840	P	TTH002	Tooth Agenesis	63
1841	P	PRS038	Personality Disorder	63
1842	c	PNS012	Paine Syndrome	63
1843	P	EPL198	Epilepsy, Myoclonic Juvenile	62
1844	P	DST002	Distal Arthrogryposis	61
1845	c	ART061	Arthrogryposis, Distal, Type 2a	60
1846	c	PRX059	Peroxisome Biogenesis Disorder 1a	59
1847		PST028	Post-Traumatic Stress Disorder	59
1848	P	CHR625	Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	59
1849	c	LSS005	Lissencephaly 1	59
1850		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	59
1851	c	LSS006	Lissencephaly 2	59
1852	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	58
1853		BLM002	Bulimia Nervosa	58
1854	c	CHR627	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	58
1855	P	LMB006	Limb-Girdle Muscular Dystrophy	56
1856	c	ART120	Arthrogryposis, Distal, Type 3	55
1857		APH002	Aphasia	55
1858	c	JBR041	Joubert Syndrome 3	55
1859		GNR004	Generalized Anxiety Disorder	54
1860		DSS008	Disease of Mental Health	53
1861	c	LKD019	Leukodystrophy, Hypomyelinating, 6	53
1862	P	LSS037	Lissencephaly, X-Linked, 2	53
1863	c	ART119	Arthrogryposis, Distal, Type 5	53
1864	P	PRV006	Pervasive Developmental Disorder	53
1865		STT041	Stuttering	53
1866	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	52
1867		APR001	Apraxia	52
1868	P	BSL038	Basal Ganglia Calcification, Idiopathic, 1	52
1869	P	TCD001	Tic Disorder	52
1870		MNT002	Mental Depression	51
1871	c	LKD010	Leukodystrophy, Hypomyelinating, 2	51
1872	c	LKD009	Leukodystrophy, Hypomyelinating, 5	50
1873		SMT006	Somatoform Disorder	50
1874	c	CHR656	Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	50
1875	c	ART155	Arthrogryposis, Distal, Type 2b1	50
1876		MLD018	Mild Cognitive Impairment	50
1877	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	50
1878	c	JBR004	Joubert Syndrome 2	50
1879	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	50
1880	c	PNT037	Pontocerebellar Hypoplasia, Type 3	49
1881	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	49
1882		HYP016	Hypochondriasis	49
1883	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	49
1884	c	JBR012	Joubert Syndrome 5	48
1885		PRG033	Progressive Non-Fluent Aphasia	48
1886	c	LSS036	Lissencephaly, X-Linked, 1	48
1887	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	48
1888		ADJ001	Adjustment Disorder	48
1889	c	JBR013	Joubert Syndrome 8	48
1890	c	CHR647	Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	48
1891	c	ART147	Arthrogryposis, Distal, Type 7	48
1892	P	CHR345	Chronic Pain	48
1893	P	ASP001	Asperger Syndrome	47
1894		FRG008	Fragile X-Associated Tremor/ataxia Syndrome	47
1895	c	JBR025	Joubert Syndrome 17	47
1896	c	LKD020	Leukodystrophy, Hypomyelinating, 10	47
1897		ARB005	Arboleda-Tham Syndrome	47
1898	c	JBR024	Joubert Syndrome 14	47
1899	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	47
1900	P	PNT019	Pontocerebellar Hypoplasia	46
1901	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	46
1902	c	JBR035	Joubert Syndrome 24	46
1903	c	JBR043	Joubert Syndrome 32	46
1904	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	46
1905	c	JBR031	Joubert Syndrome 21	46
1906	c	CHR670	Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	46
1907	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	46
1908	c	INT520	Intellectual Developmental Disorder, Autosomal Dominant 7	46
1909	c	PNT043	Pontocerebellar Hypoplasia, Type 4	46
1910	c	LSS010	Lissencephaly 4	46
1911	c	JBR022	Joubert Syndrome 20	45
1912	c	JBR011	Joubert Syndrome 7	45
1913	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	45
1914	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	45
1915	c	FML363	Familial Adult Myoclonic Epilepsy	44
1916	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	44
1917	c	JBR026	Joubert Syndrome 15	44
1918	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	44
1919	c	JBR042	Joubert Syndrome 23	44
1920	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	43
1921	c	JBR018	Joubert Syndrome 4	43
1922	c	JBR016	Joubert Syndrome 10	43
1923	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	43
1924	c	ART104	Arthrogryposis, Distal, Type 5d	43
1925	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	43
1926	c	LSS009	Lissencephaly 3	43
1927	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	43
1928		XLN195	X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	43
1929	P	NNS032	Non-Syndromic X-Linked Intellectual Disability	43
1930	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	43
1931	c	MYC083	Myoclonic Epilepsy, Familial Infantile	43
1932	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	42
1933	P	INT399	Intellectual Developmental Disorder, X-Linked 109	42
1934		CYC008	Cyclic Vomiting Syndrome	42
1935	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	42
1936		INT504	Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	41
1937	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	41
1938	c	CHR653	Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	41
1939	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	41
1940		CHR501	Chromosome 17q12 Deletion Syndrome	41
1941	c	ART157	Arthrogryposis, Distal, Type 2b3	41
1942	c	LKD016	Leukodystrophy, Hypomyelinating, 9	41
1943	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	41
1944	c	PNT039	Pontocerebellar Hypoplasia, Type 7	41
1945	c	JBR015	Joubert Syndrome 6	40
1946	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	40
1947	c	JBR030	Joubert Syndrome 22	40
1948	P	KNB001	Knobloch Syndrome	40
1949	P	CNG629	Congenital Disorder of Deglycosylation 1	39
1950	c	LSS025	Lissencephaly 5	39
1951	c	INT536	Intellectual Developmental Disorder, Autosomal Dominant 21	39
1952	c	JBR028	Joubert Syndrome 13	39
1953	c	PRX054	Peroxisome Biogenesis Disorder 12a	39
1954	c	JBR037	Joubert Syndrome 26	39
1955	c	LSS042	Lissencephaly 10	39
1956	c	JBR027	Joubert Syndrome 16	39
1957	c	LKD008	Leukodystrophy, Hypomyelinating, 4	39
1958	c	PRX055	Peroxisome Biogenesis Disorder 11a	39
1959	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	39
1960	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	38
1961		ASP024	Asparagine Synthetase Deficiency	38
1962	c	SCH056	Schizophrenia 15	38
1963	c	PNT050	Pontocerebellar Hypoplasia, Type 11	38
1964	c	ATS525	Autosomal Dominant Intellectual Developmental Disorder 8	38
1965	c	INT542	Intellectual Developmental Disorder, Autosomal Dominant 29	37
1966	c	LKD021	Leukodystrophy, Hypomyelinating, 11	37
1967	c	JBR036	Joubert Syndrome 25	37
1968	c	KNB006	Knobloch Syndrome 1	37
1969	c	ART156	Arthrogryposis, Distal, Type 2b2	37
1970	c	PRX063	Peroxisome Biogenesis Disorder 2a	37
1971	c	JBR021	Joubert Syndrome 18	37
1972	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	37
1973	c	ART112	Arthrogryposis, Distal, Type 10	37
1974	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	36
1975	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	36
1976	c	JBR040	Joubert Syndrome 30	36
1977	P	ENC056	Encephalopathy, Acute, Infection-Induced 4	36
1978	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	36
1979	c	PRX060	Peroxisome Biogenesis Disorder 5a	36
1980	P	HYP700	Hypomyelinating Leukodystrophy	36
1981	c	INT455	Intellectual Developmental Disorder, Autosomal Dominant 56	35
1982	c	LSS035	Lissencephaly 8	35
1983		DVL001	Developmental Coordination Disorder	35
1984	c	PRX050	Peroxisome Biogenesis Disorder 9b	35
1985	c	ART168	Arthrogryposis, Distal, Type 1c	35
1986	c	JBR045	Joubert Syndrome 33	35
1987	c	EPL155	Epilepsy, Progressive Myoclonic, 8	35
1988	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	34
1989		FTL007	Fetal Hydantoin Syndrome	34
1990	c	PNT052	Pontocerebellar Hypoplasia, Type 12	34
1991		PRC054	Perching Syndrome	34
1992		MLD017	Mal De Debarquement Syndrome	34
1993	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	34
1994	c	EPL134	Epilepsy, Progressive Myoclonic 7	34
1995	c	JBR014	Joubert Syndrome 9	34
1996	c	PRX057	Peroxisome Biogenesis Disorder 4a	34
1997	c	PNT030	Pontocerebellar Hypoplasia, Type 8	34
1998	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	34
1999	c	PRX065	Peroxisome Biogenesis Disorder 3a	34
2000	c	LMB073	Limb-Girdle Muscular Dystrophy Type 1a	34
2001	c	INT550	Intellectual Developmental Disorder, Autosomal Dominant 41	34
2002		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	34
2003		VNT030	Ventriculomegaly with Cystic Kidney Disease	33
2004	c	PRX051	Peroxisome Biogenesis Disorder 6a	33
2005	c	CRT081	Cortical Dysplasia, Complex, with Other Brain Malformations 7	33
2006		CHR379	Chromosome 15q26-Qter Deletion Syndrome	33
2007	c	INT514	Intellectual Developmental Disorder, Autosomal Dominant 3	32
2008	c	PRX046	Peroxisome Biogenesis Disorder 7a	32
2009		MGC007	Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations	32
2010	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	32
2011	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	32
2012		MRC001	Marchiafava Bignami Disease	32
2013	c	INT430	Intellectual Developmental Disorder, X-Linked 98	32
2014	c	INT551	Intellectual Developmental Disorder, Autosomal Dominant 43	32
2015	c	HYP723	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1	32
2016		SDN002	Sudanophilic Cerebral Sclerosis	32
2017	c	INT557	Intellectual Developmental Disorder, Autosomal Dominant 48	32
2018		SYN091	Syndromic X-Linked Intellectual Disability Nascimento Type	32
2019		SML010	Simultanagnosia	31
2020		RMN001	Rumination Disorder	31
2021		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	31
2022	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	31
2023	c	PRX048	Peroxisome Biogenesis Disorder 10a	31
2024		DSS002	Dissociative Amnesia	31
2025	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	31
2026		WSS006	Weiss-Kruszka Syndrome	31
2027	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	31
2028	c	INT507	Intellectual Developmental Disorder, Autosomal Recessive 5	31
2029	c	EPL188	Epilepsy, Progressive Myoclonic, 10	31
2030	c	RNG017	Ring Chromosome 21	31
2031	P	ATS522	Autosomal Dominant Intellectual Developmental Disorder	31
2032		RGN005	Regional Odontodysplasia	31
2033		ENC059	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity	30
2034	P	PRX064	Peroxisome Biogenesis Disorder 2b	30
2035		CHR265	Chromosome 8p Duplication	30
2036	c	ART060	Arthrogryposis, Distal, Type 1b	30
2037	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	30
2038	c	RNG004	Ring Chromosome 1	30
2039	c	JBR039	Joubert Syndrome 28	30
2040	c	PRX058	Peroxisome Biogenesis Disorder 4b	30
2041	c	PRX052	Peroxisome Biogenesis Disorder 13a	30
2042	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	30
2043	c	INT549	Intellectual Developmental Disorder, Autosomal Dominant 38	30
2044	c	SPS244	Spastic Paraplegia 86, Autosomal Recessive	30
2045	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
2046	c	SCH087	Schizophrenia 18	29
2047	c	PNT056	Pontocerebellar Hypoplasia, Type 15	29
2048		CHR209	Chromosome 17p Duplication	29
2049	c	CFF017	Coffin-Siris Syndrome 12	29
2050	c	PRX066	Peroxisome Biogenesis Disorder 3b	29
2051	c	MSC191	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	29
2052	c	EPL154	Epilepsy, Progressive Myoclonic, 9	28
2053	c	PRX091	Peroxisome Biogenesis Disorder 8a	28
2054	c	PRX043	Peroxisome Biogenesis Disorder 6b	28
2055		MSC016	Mosaic Trisomy 14	28
2056	c	PRX047	Peroxisome Biogenesis Disorder 5b	28
2057	c	RNG024	Ring Chromosome 8	28
2058	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
2059		PST044	Postorgasmic Illness Syndrome	28
2060	c	MYC086	Myoclonic Epilepsy, Juvenile 4	28
2061	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	28
2062	c	LKD028	Leukodystrophy, Hypomyelinating, 15	28
2063	c	CRN217	Craniosynostosis 3	28
2064	c	LKD030	Leukodystrophy, Hypomyelinating, 17	28
2065		16Q001	16q24.3 Microdeletion Syndrome	28
2066	c	ATS527	Autosomal Dominant Intellectual Developmental Disorder 31	28
2067	c	SCH085	Schizophrenia 2	27
2068	c	PRX068	Peroxisome Biogenesis Disorder 7b	27
2069	c	MYC068	Myoclonic Epilepsy of Infancy	27
2070		THV001	Thauvin-Robinet-Faivre Syndrome	27
2071	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	27
2072	c	ART128	Arthrogryposis, Distal, Type 6	27
2073	c	ART131	Arthrogryposis, Distal, Type 4	27
2074	c	INT562	Intellectual Developmental Disorder, Autosomal Dominant 54	27
2075	c	INT563	Intellectual Developmental Disorder, Autosomal Dominant 57	27
2076		SYN079	Syndromic X-Linked Intellectual Disability Siderius Type	27
2077		INT369	Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type	27
2078	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	27
2079	c	JBR044	Joubert Syndrome 31	27
2080	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	27
2081	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
2082	c	ENC060	Encephalopathy, Acute, Infection-Induced 1	27
2083	c	INT517	Intellectual Developmental Disorder, Autosomal Recessive 13	27
2084	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	27
2085		NVD003	Nevoid Hypermelanosis, Linear and Whorled	27
2086	c	BSL032	Basal Ganglia Calcification, Idiopathic, 4	26
2087	c	PNT055	Pontocerebellar Hypoplasia, Type 14	26
2088	c	LKD027	Leukodystrophy, Hypomyelinating, 14	26
2089	c	BSL046	Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	26
2090	c	PRX062	Peroxisome Biogenesis Disorder 8b	26
2091	c	LKD031	Leukodystrophy, Hypomyelinating, 18	26
2092	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	26
2093		WCK004	Wieacker-Wolff Syndrome, Female-Restricted	26
2094	c	INT561	Intellectual Developmental Disorder, Autosomal Dominant 53	26
2095	c	JBR049	Joubert Syndrome 37	26
2096		DRG004	Drug-Induced Mental Disorder	26
2097		RDT018	Radio-Tartaglia Syndrome	25
2098		INT458	Intellectual Developmental Disorder, Autosomal Recessive 18, with or Without Epilepsy	25
2099		LSS039	Lissencephaly 6 with Microcephaly	25
2100	c	RTS005	Ritscher-Schinzel Syndrome 4	25
2101	c	LKD029	Leukodystrophy, Hypomyelinating, 16	25
2102	c	LMB074	Limb-Girdle Muscular Dystrophy Type 1b	25
2103	c	DYS185	Dystonia 13, Torsion, Autosomal Dominant	25
2104	c	CNG630	Congenital Disorder of Deglycosylation 2	25
2105	c	ATS358	Autism X-Linked 6	25
2106	c	SCH073	Schizophrenia 9	25
2107	c	BSL049	Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	25
2108	c	KNB005	Knobloch Syndrome 2	25
2109	c	INT506	Intellectual Developmental Disorder, Autosomal Recessive 3	24
2110		NRD068	Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia	24
2111	c	PRX056	Peroxisome Biogenesis Disorder 11b	24
2112	c	INT523	Intellectual Developmental Disorder, Autosomal Dominant 10	24
2113	c	BSL035	Basal Ganglia Calcification, Idiopathic, 5	24
2114	c	ATS524	Autosomal Dominant Intellectual Developmental Disorder 6	24
2115	c	INT471	Intellectual Developmental Disorder, Autosomal Recessive 27	24
2116		HLP032	Holoprosencephaly 13, X-Linked	24
2117	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	24
2118	c	INT344	Intellectual Developmental Disorder, Autosomal Recessive 69	24
2119	c	INT336	Intellectual Developmental Disorder, Autosomal Recessive 68	24
2120	c	ATS268	Autism X-Linked 4	24
2121	c	CHR724	Charcot-Marie-Tooth Disease, Demyelinating, Type 1i	24
2122	c	JBR047	Joubert Syndrome 35	24
2123	c	BSL039	Basal Ganglia Calcification, Idiopathic, 6	24
2124		16P004	16p13.11 Microduplication Syndrome	24
2125	c	JBR038	Joubert Syndrome 27	24
2126	c	ADV006	Advanced Sleep Phase Syndrome, Familial, 3	24
2127	c	INT559	Intellectual Developmental Disorder, Autosomal Dominant 51	24
2128		MYC075	Myoclonus, Intractable, Neonatal	24
2129		SPN425	Spondyloepimetaphyseal Dysplasia, Krakow Type	24
2130	c	INT477	Intellectual Developmental Disorder, Autosomal Recessive 74	24
2131	c	INT397	Intellectual Developmental Disorder, X-Linked 50	24
2132	c	JBR050	Joubert Syndrome 38	24
2133		ADT001	Auditory Agnosia	24
2134	c	NNS112	Non-Syndromic X-Linked Intellectual Disability 21	24
2135	c	ENC064	Encephalopathy, Acute, Infection-Induced 8	24
2136	c	LKD032	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	23
2137	c	ASP032	Asperger Syndrome 1	23
2138	c	INT462	Intellectual Developmental Disorder, Autosomal Dominant 34	23
2139	c	INT345	Intellectual Developmental Disorder, Autosomal Recessive 70	23
2140	c	ENC037	Encephalopathy, Acute, Infection-Induced 6	23
2141	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	23
2142	c	CFF016	Coffin-Siris Syndrome 11	23
2143	c	INT540	Intellectual Developmental Disorder, Autosomal Recessive 44	23
2144	c	CHR725	Charcot-Marie-Tooth Disease, Demyelinating, Type 1h	23
2145	c	JBR048	Joubert Syndrome 36	23
2146	c	CHR681	Charcot-Marie-Tooth Disease, Demyelinating, Type 1g	23
2147		ONY008	Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome	23
2148	c	INT364	Intellectual Developmental Disorder, Autosomal Recessive 72	23
2149	c	INT468	Intellectual Developmental Disorder, Autosomal Recessive 66	23
2150		INT456	Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies	23
2151		CHR639	Chromosome Xp11.22 Duplication Syndrome	23
2152	c	CRN216	Craniosynostosis 5	23
2153		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	23
2154		CRP036	Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	23
2155	c	MYC085	Myoclonic Epilepsy, Juvenile 3	23
2156	c	JBR051	Joubert Syndrome 39	23
2157	c	CNT068	Central Pain Syndrome	22
2158		ATX050	Ataxia, Intention Tremor, and Hypotonia Syndrome, Childhood-Onset	22
2159	c	ATS529	Autosomal Dominant Intellectual Developmental Disorder 40	22
2160	c	MSC202	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	22
2161	c	NPH107	Nephrotic Syndrome, Type 19	22
2162	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	22
2163	c	INT398	Intellectual Developmental Disorder, Autosomal Recessive 12	22
2164	c	JBR052	Joubert Syndrome 40	22
2165	c	EPL210	Epilepsy, Progressive Myoclonic, 6	22
2166	c	ENC070	Encephalopathy, Acute, Infection-Induced 9	22
2167		LNG104	Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia	22
2168	c	INT519	Intellectual Developmental Disorder, Autosomal Recessive 14	22
2169	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	22
2170	c	NNS088	Non-Syndromic X-Linked Intellectual Disability 63	22
2171	c	INT474	Intellectual Developmental Disorder, Autosomal Recessive 43	22
2172		SPN409	Spongiform Encephalopathy with Neuropsychiatric Features	22
2173		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	22
2174	c	ENC063	Encephalopathy, Acute, Infection-Induced 7	22
2175	c	LKD033	Leukodystrophy, Hypomyelinating, 20	21
2176	c	EPL217	Epilepsy, Juvenile Myoclonic 10	21
2177	c	INT553	Intellectual Developmental Disorder, Autosomal Recessive 60	21
2178	c	INT480	Intellectual Developmental Disorder, Autosomal Recessive 73	21
2179	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
2180	c	LKD034	Leukodystrophy, Hypomyelinating, 21	21
2181	c	INT565	Intellectual Developmental Disorder, Autosomal Recessive 64	21
2182		CRB164	Cerebrooculonasal Syndrome	21
2183		MLT148	Multiple Pterygium Syndrome, X-Linked	21
2184		CMB101	Combined Oxidative Phosphorylation Deficiency 45	21
2185	c	PNT060	Pontocerebellar Hypoplasia, Type 17	21
2186	c	ENC062	Encephalopathy, Acute, Infection-Induced 5	21
2187	c	INT464	Intellectual Developmental Disorder, Autosomal Recessive 51	21
2188	P	USM001	Usmani-Riazuddin Syndrome, Autosomal Dominant	21
2189		BDY022	Body Integrity Dysphoria	21
2190		19P001	19p13.12 Microdeletion Syndrome	20
2191	c	EPL257	Epilepsy, Progressive Myoclonic, 12	20
2192	c	MSC199	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	20
2193	c	ENC072	Encephalopathy, Acute, Infection-Induced 10	20
2194	c	INT534	Intellectual Developmental Disorder, Autosomal Recessive 35	20
2195	c	ATS354	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z	20
2196	c	INT564	Intellectual Developmental Disorder, Autosomal Recessive 63	20
2197		INF174	Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development	19
2198		MTC222	Mitochondrial Complex Iv Deficiency, Nuclear Type 15	19
2199	c	ART175	Arthrogryposis, Distal, Type 11	19
2200		SYN083	Syndromic X-Linked Intellectual Disability Shashi Type	19
2201		DSS025	Dissociative Seizures	19
2202	c	INT467	Intellectual Developmental Disorder, Autosomal Recessive 56	19
2203	c	ART054	Arthrogryposis, Distal, Type 2e	18
2204		MTC226	Mitochondrial Complex Iv Deficiency, Nuclear Type 19	18
2205	c	LSS044	Lissencephaly 6	18
2206	c	INT576	Intellectual Developmental Disorder, Autosomal Recessive 76	18
2207	c	INT541	Intellectual Developmental Disorder, Autosomal Recessive 45	18
2208	c	ASP031	Asperger Syndrome 2	18
2209	c	INT463	Intellectual Developmental Disorder, Autosomal Recessive 50	18
2210	c	NNS119	Non-Syndromic X-Linked Intellectual Disability 96	18
2211		DFN391	Deafness, Cataract, Impaired Intellectual Development, and Polyneuropathy	17
2212	c	INT465	Intellectual Developmental Disorder, Autosomal Recessive 52	17
2213	c	USM002	Usmani-Riazuddin Syndrome, Autosomal Recessive	17
2214	c	INT531	Intellectual Developmental Disorder, Autosomal Recessive 25	17
2215	c	INT510	Intellectual Developmental Disorder, Autosomal Recessive 10	17
2216	c	NNS124	Non-Syndromic X-Linked Intellectual Disability 101	17
2217	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	17
2218	c	CHR732	Charcot-Marie-Tooth Disease, Demyelinating, Type 1j	17
2219	c	MJR013	Major Depressive Disorder 1	16
2220	c	INT526	Intellectual Developmental Disorder, Autosomal Recessive 33	16
2221	c	INT530	Intellectual Developmental Disorder, Autosomal Recessive 24	16
2222	c	MJR014	Major Depressive Disorder 2	16
2223	c	SYN077	Syndromic X-Linked Intellectual Disability 12	16
2224	c	NNS118	Non-Syndromic X-Linked Intellectual Disability 99	16
2225	c	INT525	Intellectual Developmental Disorder, Autosomal Recessive 29	16
2226	c	INT522	Intellectual Developmental Disorder, Autosomal Recessive 16	15
2227	c	INT532	Intellectual Developmental Disorder, Autosomal Recessive 28	15
2228	c	EPL186	Epilepsy, Juvenile Myoclonic 9	15
2229	c	PMG002	Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	14
2230	c	NNS123	Non-Syndromic X-Linked Intellectual Disability 97	14
2231	c	INT524	Intellectual Developmental Disorder, Autosomal Recessive 31	14
2232	c	NNS114	Non-Syndromic X-Linked Intellectual Disability 106	14
2233		DYS044	Dysmorphism Cleft Palate Loose Skin	14
2234		ALC013	Alcohol-Induced Mental Disorder	13
2235	c	ASP033	Asperger Syndrome 3	13
2236	c	NNS122	Non-Syndromic X-Linked Intellectual Disability 98	12
2237	c	ASP034	Asperger Syndrome 4	12
2238	c	NNS125	Non-Syndromic X-Linked Intellectual Disability 107	10
2239	c	NNS130	Non-Syndromic X-Linked Intellectual Disability 23	10
2240	c	NNS127	Nonsyndromic Tooth Agenesis	9
2241	c	NNS128	Non-Syndromic X-Linked Intellectual Disability 73	9
2242		SYN180	Syndromic X-Linked Intellectual Disability Shrimpton Type	9
2243	c	NNS120	Non-Syndromic X-Linked Intellectual Disability 105	6
2244	c	NNS121	Non-Syndromic X-Linked Intellectual Disability 100	6
2245		SYN181	Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type	6
2246		SYN094	Syndromic X-Linked Mental Retardation Hough Type	4
2247		NRB018	Neurobehavioral Disorder with Prenatal Alcohol Exposure	3
2248	c	MNN047	Mannosidosis, Alpha B, Lysosomal	70
2249		FRS002	Frasier Syndrome	57
2250	P	MNN019	Mannosidosis, Beta a, Lysosomal	50
2251		GRD009	Gordon Holmes Syndrome	49
2252		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	41
2253		MCR070	Microcornea, Glaucoma, and Absent Frontal Sinuses	19
2254	P	SCH015	Schizophrenia	76
2255	P	FRN006	Frontotemporal Dementia	72
2256		PCK003	Pick Disease of Brain	71
2257		ANX010	Anxiety	69
2258	P	CNG001	Congenital Myasthenic Syndrome	65
2259		ART002	Arts Syndrome	64
2260	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	63
2261	P	NPH012	Nephrotic Syndrome	61
2262		PBL005	Piebald Trait	59
2263	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	56
2264	c	MYS051	Myasthenic Syndrome, Congenital, 5	56
2265		HLS003	Helsmoortel-Van Der Aa Syndrome	54
2266	P	NRC002	Narcolepsy	54
2267	c	NRC009	Narcolepsy 1	54
2268	c	NPH049	Nephrotic Syndrome, Type 2	53
2269	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	52
2270	P	TRC102	Trichothiodystrophy 1, Photosensitive	52
2271	P	PNC025	Panic Disorder	52
2272		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	51
2273	c	INT483	Intellectual Developmental Disorder, Autosomal Dominant 1	50
2274		DSN001	De Sanctis-Cacchione Syndrome	50
2275	c	NPH102	Nephrotic Syndrome, Type 14	50
2276	P	PRS062	Persistent Hyperplastic Primary Vitreous	50
2277	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	49
2278	c	HYP597	Hyperprolinemia, Type Ii	48
2279	P	NRM002	Normal Pressure Hydrocephalus	48
2280	c	FML015	Familial Nephrotic Syndrome	47
2281		WHT019	White-Sutton Syndrome	46
2282		CRB169	Cerebellar Atrophy, Developmental Delay, and Seizures	46
2283		NSC005	Nescav Syndrome	45
2284	c	SPR041	Spermatogenic Failure 6	45
2285		CNV002	Conversion Disorder	45
2286	c	NPH072	Nephrotic Syndrome, Type 7	44
2287	c	MYS052	Myasthenic Syndrome, Congenital, 10	43
2288	c	CFF009	Coffin-Siris Syndrome 4	43
2289	c	SPR043	Spermatogenic Failure 9	42
2290	c	NPH054	Nephrotic Syndrome, Type 3	42
2291	c	NPH076	Nephrotic Syndrome, Type 10	42
2292	c	NRC010	Narcolepsy 2	41
2293	c	MYS075	Myasthenic Syndrome, Congenital, 13	41
2294	c	MYS074	Myasthenic Syndrome, Congenital, 12	41
2295	c	MYS076	Myasthenic Syndrome, Congenital, 8	41
2296		INT417	Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	41
2297		BSL048	Basilicata-Akhtar Syndrome	41
2298		FML366	Female-Restricted Syndromic X-Linked Intellectual Disability 99	40
2299	P	HYP111	Hyperprolinemia	40
2300	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
2301	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	40
2302		VLT001	Vulto-Van Silfhout-De Vries Syndrome	40
2303	P	SYN080	Syndromic X-Linked Intellectual Disability 34	40
2304		ENC038	Encephalopathy, Progressive, with or Without Lipodystrophy	39
2305	c	NPH047	Nephrotic Syndrome, Type 4	39
2306	c	SPR061	Spermatogenic Failure 5	39
2307	c	INT533	Intellectual Developmental Disorder, Autosomal Dominant 13	39
2308	P	ADV001	Advanced Sleep Phase Syndrome	39
2309	c	BRN140	Brain Small Vessel Disease 2	39
2310	c	SPR089	Spermatogenic Failure 4	38
2311		TRN012	Transient Global Amnesia	38
2312		KLN009	Kleine-Levin Hibernation Syndrome	38
2313		CMB091	Combined Oxidative Phosphorylation Deficiency 39	38
2314	c	MYS067	Myasthenic Syndrome, Congenital, 22	38
2315	P	INT454	Intellectual Developmental Disorder, Autosomal Dominant 55, with Seizures	38
2316	c	CFF007	Coffin-Siris Syndrome 2	38
2317	c	CFF010	Coffin-Siris Syndrome 3	38
2318	c	NPH108	Nephrotic Syndrome, Type 20	37
2319	P	SPR062	Spermatogenic Failure	37
2320	c	SPR118	Spermatogenic Failure 1	36
2321	c	MYS070	Myasthenic Syndrome, Congenital, 19	36
2322	c	NPH074	Nephrotic Syndrome, Type 9	36
2323		CMB048	Combined Oxidative Phosphorylation Deficiency 15	35
2324		KLV001	Kluver-Bucy Syndrome	35
2325		SYN177	Syndromic X-Linked Intellectual Disability Najm Type	35
2326		GND017	Gand Syndrome	35
2327	c	SPR111	Spermatogenic Failure 16	35
2328		MLS013	Miles-Carpenter Syndrome	34
2329	c	MYS064	Myasthenic Syndrome, Congenital, 16	34
2330	c	BRN141	Brain Small Vessel Disease 3	34
2331		SYN175	Syndromic X-Linked Intellectual Disability Lubs Type	34
2332	c	TRC099	Trichothiodystrophy 2, Photosensitive	34
2333	c	SPR082	Spermatogenic Failure 10	34
2334	c	SPR088	Spermatogenic Failure 7	33
2335	c	SPR042	Spermatogenic Failure 8	33
2336	c	MYS077	Myasthenic Syndrome, Congenital, 15	33
2337	c	SPR113	Spermatogenic Failure 18	33
2338	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	33
2339	c	CFF014	Coffin-Siris Syndrome 9	33
2340	c	INT342	Intellectual Developmental Disorder, X-Linked 108	32
2341		SYN092	Syndromic X-Linked Intellectual Disability Cabezas Type	32
2342		SYN178	Syndromic X-Linked Intellectual Disability Claes-Jensen Type	32
2343	c	NPH111	Nephrotic Syndrome, Type 21	31
2344	c	BRN149	Brain Small Vessel Disease 1	31
2345		MSC021	Mosaic Trisomy 9	31
2346		PRT110	Prieto Syndrome	31
2347	c	INT555	Intellectual Developmental Disorder, Autosomal Dominant 46	30
2348	c	MYS065	Myasthenic Syndrome, Congenital, 18	30
2349		LNG113	Liang-Wang Syndrome	30
2350		SYN090	Syndromic X-Linked Intellectual Disability Turner Type	30
2351	c	SPR084	Spermatogenic Failure 2	30
2352	c	INT472	Intellectual Developmental Disorder, Autosomal Recessive 39	29
2353	c	INT546	Intellectual Developmental Disorder, Autosomal Dominant 33	29
2354		ARM005	Armfield Syndrome	29
2355	c	ATS526	Autosomal Dominant Intellectual Developmental Disorder 19	29
2356	c	INT521	Intellectual Developmental Disorder, Autosomal Dominant 2	29
2357	c	INT505	Intellectual Developmental Disorder, Autosomal Recessive 2	29
2358	c	CFF013	Coffin-Siris Syndrome 8	29
2359	P	BRN150	Brain Small Vessel Disease	28
2360		CHR712	Chromosome 20q11-Q12 Deletion Syndrome	28
2361	c	PLY181	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2	28
2362	c	RNG005	Ring Chromosome 10	28
2363		CRB204	Cerebellar, Ocular, Craniofacial, and Genital Syndrome	28
2364	c	INT560	Intellectual Developmental Disorder, Autosomal Dominant 52	28
2365	c	INT554	Intellectual Developmental Disorder, Autosomal Dominant 45	28
2366	c	SPR086	Spermatogenic Failure 3	27
2367	c	NPH103	Nephrotic Syndrome, Type 15	27
2368	c	SPR095	Spermatogenic Failure 14	27
2369	c	MYS056	Myasthenic Syndrome, Congenital, 17	27
2370	c	INT475	Intellectual Developmental Disorder, Autosomal Dominant 39	27
2371	c	NPH114	Nephrotic Syndrome, Type 22	27
2372		SNJ003	Snijders Blok-Fisher Syndrome	27
2373		CRN042	Carnosinemia	27
2374	c	INT535	Intellectual Developmental Disorder, Autosomal Recessive 37	27
2375		JBR046	Jaberi-Elahi Syndrome	27
2376		STN014	Stankiewicz-Isidor Syndrome	26
2377	c	ATS523	Autosomal Recessive Intellectual Developmental Disorder	26
2378	c	NPH073	Nephrotic Syndrome, Type 8	26
2379	c	INT558	Intellectual Developmental Disorder, Autosomal Recessive 61	26
2380	c	INT515	Intellectual Developmental Disorder, Autosomal Dominant 4	26
2381	c	NPH095	Nephrotic Syndrome, Type 11	26
2382	c	NNS087	Non-Syndromic X-Linked Intellectual Disability 93	25
2383	c	SPR116	Spermatogenic Failure 15	25
2384	c	INT544	Intellectual Developmental Disorder, Autosomal Recessive 46	25
2385	c	SPR131	Spermatogenic Failure 28	25
2386	c	INT567	Intellectual Developmental Disorder, Autosomal Recessive 65	25
2387	c	INT508	Intellectual Developmental Disorder, Autosomal Recessive 7	25
2388		INT402	Intellectual Developmental Disorder, Autosomal Dominant 50, with Behavioral Abnormalities	25
2389	c	INT348	Intellectual Developmental Disorder, Autosomal Recessive 71	24
2390	c	NPH070	Nephrotic Syndrome, Type 6	24
2391	c	SPR128	Spermatogenic Failure 25	24
2392		SYN176	Syndromic X-Linked Intellectual Disability Hedera Type	24
2393	c	INT479	Intellectual Developmental Disorder, Autosomal Recessive 58	24
2394		KLQ001	Kilquist Syndrome	24
2395	c	NPH106	Nephrotic Syndrome, Type 18	24
2396		MNT196	Mental Retardation, X-Linked 92	24
2397	c	SPR127	Spermatogenic Failure 24	24
2398	c	RNG015	Ring Chromosome 2	23
2399	c	INT335	Intellectual Developmental Disorder, Autosomal Recessive 67	23
2400	c	SPR110	Spermatogenic Failure 17	23
2401	c	RNG019	Ring Chromosome 3	23
2402	c	INT484	Intellectual Developmental Disorder, Autosomal Recessive 1	23
2403	c	SPR112	Spermatogenic Failure 21	23
2404	c	SPR149	Spermatogenic Failure 39	23
2405		LSS043	Lessel-Kreienkamp Syndrome	23
2406		DVL019	Developmental Delay and Seizures with or Without Movement Abnormalities	23
2407	c	SPR081	Spermatogenic Failure 11	22
2408	c	SPR125	Spermatogenic Failure 23	22
2409		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	22
2410	c	SPR158	Spermatogenic Failure 46	22
2411		NRD025	Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations	22
2412		PGN002	Paganini-Miozzo Syndrome	22
2413	c	SPR115	Spermatogenic Failure 19	22
2414	c	NRC017	Narcolepsy 7	22
2415	c	SPR141	Spermatogenic Failure 36	22
2416		MTB009	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	22
2417	c	SPR150	Spermatogenic Failure 40	22
2418		SZR029	Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications	22
2419	c	NNS083	Non-Syndromic X-Linked Intellectual Disability 1	22
2420	c	SPR153	Spermatogenic Failure 43	22
2421	c	SPR114	Spermatogenic Failure 20	21
2422		LCM001	Li-Campeau Syndrome	21
2423	c	NNS089	Non-Syndromic X-Linked Intellectual Disability 30	21
2424	c	SPR143	Spermatogenic Failure 38	21
2425	c	SPR173	Spermatogenic Failure 57	21
2426	c	SPR191	Spermatogenic Failure 74	21
2427	c	SPR176	Spermatogenic Failure 61	21
2428	c	SPR140	Spermatogenic Failure 35	21
2429	c	SPR152	Spermatogenic Failure 42	21
2430	c	NPH104	Nephrotic Syndrome, Type 16	21
2431	c	INT579	Intellectual Developmental Disorder, Autosomal Recessive 77	21
2432		CHR159	Charlie M Syndrome	20
2433		MTC223	Mitochondrial Complex Iv Deficiency, Nuclear Type 16	20
2434		VLN001	Valinemia	20
2435	c	SPR137	Spermatogenic Failure 34	20
2436		PCH004	Pachygyria, Frontotemporal	20
2437	c	SYN170	Syndromic X-Linked Intellectual Disability 94	20
2438	c	SPR172	Spermatogenic Failure 56	20
2439	c	SPR134	Spermatogenic Failure 31	20
2440	c	SPR160	Spermatogenic Failure 48	20
2441	c	SPR136	Spermatogenic Failure 33	20
2442	c	SPR157	Spermatogenic Failure 45	20
2443	c	SPR181	Spermatogenic Failure 65	20
2444		CNG108	Congenital Mitral Stenosis	20
2445	c	SPR087	Spermatogenic Failure 12	20
2446	c	TRC128	Trichothiodystrophy 9, Nonphotosensitive	19
2447	c	SPR142	Spermatogenic Failure 37	19
2448	c	SPR161	Spermatogenic Failure 49	19
2449	c	SPR180	Spermatogenic Failure 64	19
2450	c	NNS093	Non-Syndromic X-Linked Intellectual Disability 41	19
2451	c	NPH119	Nephrotic Syndrome, Type 26	19
2452	c	SPR130	Spermatogenic Failure 27	19
2453	c	SPR133	Spermatogenic Failure 30	19
2454	c	SPR163	Spermatogenic Failure 51	18
2455	c	INT461	Intellectual Developmental Disorder, Autosomal Recessive 47	18
2456	c	SPR135	Spermatogenic Failure 32	18
2457	c	SPR159	Spermatogenic Failure 47	18
2458	c	SPR178	Spermatogenic Failure 60	18
2459	c	SPR167	Spermatogenic Failure 53	18
2460	c	SPR156	Spermatogenic Failure 44	18
2461	c	SPR188	Spermatogenic Failure 71	18
2462		HYD049	Hydrocephalus with Cerebellar Agenesis	18
2463	c	INT509	Intellectual Developmental Disorder, Autosomal Recessive 9	18
2464	c	SPR132	Spermatogenic Failure 29	18
2465	c	SPR164	Spermatogenic Failure 52	18
2466	c	NRC011	Narcolepsy 3	18
2467	c	SPR096	Spermatogenic Failure 13	18
2468	c	SPR162	Spermatogenic Failure 50	18
2469	c	SPR151	Spermatogenic Failure 41	18
2470	c	SPR169	Spermatogenic Failure 54	18
2471	c	INT466	Intellectual Developmental Disorder, Autosomal Recessive 54	18
2472	c	HYD071	Hydrocephalus, Normal-Pressure, 1	18
2473	c	SPR189	Spermatogenic Failure 72	17
2474	c	SPR192	Spermatogenic Failure 75	17
2475	c	SPR190	Spermatogenic Failure 73	17
2476		11Q001	11q22.2q22.3 Microdeletion Syndrome	17
2477	c	SPR175	Spermatogenic Failure 59	17
2478	c	SPR177	Spermatogenic Failure 62	17
2479	c	SPR129	Spermatogenic Failure 26	17
2480	c	CNG621	Congenital Myasthenic Syndrome 7	17
2481	c	SPR174	Spermatogenic Failure 58	17
2482	c	INT552	Intellectual Developmental Disorder, Autosomal Recessive 59	17
2483	c	SPR179	Spermatogenic Failure 63	17
2484	c	SPR124	Spermatogenic Failure 22	17
2485	c	INT527	Intellectual Developmental Disorder, Autosomal Recessive 30	16
2486	c	SPR186	Spermatogenic Failure 69	16
2487	c	SPR187	Spermatogenic Failure 70	16
2488	c	NNS116	Non-Syndromic X-Linked Intellectual Disability 103	16
2489	c	SPR185	Spermatogenic Failure 68	16
2490	c	SPR196	Spermatogenic Failure 77	16
2491	c	SPR183	Spermatogenic Failure 66	16
2492	c	SPR184	Spermatogenic Failure 67	15
2493	c	SPR170	Spermatogenic Failure 55	15
2494	c	NNS082	Non-Syndromic X-Linked Intellectual Disability 9	15
2495	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	15
2496	c	INT529	Intellectual Developmental Disorder, Autosomal Recessive 23	15
2497		PCH017	Pachygyria-Intellectual Disability-Epilepsy Syndrome	14
2498	c	SPR193	Spermatogenic Failure 76	14
2499		MCR046	Microcephaly Brain Defect Spasticity Hypernatremia	14
2500	c	NRC012	Narcolepsy 4	14
2501	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	13
2502	c	PNC070	Panic Disorder 2	13
2503	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	13
2504	c	NRC018	Narcolepsy 6	13
2505	c	PNC068	Panic Disorder 3	13
2506	c	NRC013