Neuronal Diseases Category (6163 diseases)

Including: Nervous, Brain, Spinal, Mental, Intellectual
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
2	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	52
3	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	53
4	c	GLY008	Glycogen Storage Disease Ii	66
5	P	GLY013	Glycogen Storage Disease	61
6	c	GLY003	Glycogen Storage Disease Iii	61
7	c	GLY005	Glycogen Storage Disease Vi	57
8	c	GLY004	Glycogen Storage Disease V	56
9	c	GLY007	Glycogen Storage Disease Iv	54
10	c	GLY011	Glycogen Storage Disease Vii	52
11	c	GLY060	Glycogen Storage Disease Ia	50
12	c	GLY023	Glycogen Storage Disease Type 0	41
13	c	GLY098	Glycogen Storage Disease, Type Ixd	41
14	c	GLY044	Glycogen Storage Disease Ixc	40
15	c	GLY016	Glycogen Storage Disease Ib	37
16	c	GLY057	Glycogen Storage Disease X	33
17	c	GLY009	Glycogen Storage Disease Xv	30
18	c	GLY017	Glycogen Storage Disease Ic	30
19	c	GLY097	Glycogen Storage Disease Ixb	29
20	c	GLY043	Glycogen Storage Disease Xii	28
21	c	GLY006	Glycogen Storage Disease Viii	27
22	c	GLY059	Glycogen Storage Disease Xiii	24
23	c	GLY001	Glycogen Storage Disease Ix	23
24	c	GLY093	Glycogen Storage Disease Ixa	19
25		LKN026	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	32
26	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	43
27	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	56
28		NRP051	Neuropathy, Hereditary, with Liability to Pressure Palsies	58
29	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	46
30		MNT304	Mental Retardation, X-Linked, with or Without Seizures, Arx-Related	26
31	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
32	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
33	P	MTC010	Mitochondrial Dna Depletion Syndrome	41
34	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	33
35	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	32
36	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	28
37	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	27
38	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	24
39	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	24
40	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	22
41	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	19
42	c	MTC014	Mitochondrial Dna Deletion Syndromes	15
43	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	11
44	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	11
45		HYP186	Hypertrophic Neuropathy of Dejerine-Sottas	48
46		BRN028	Brain Cancer	72
47	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	58
48		MTC036	Mitochondrial Membrane Protein-Associated Neurodegeneration	26
49		ABD002	Abducens Nerve Disease	42
50	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	59
51	c	CRD225	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant	30
52		NRM016	Neuromyotonia and Axonal Neuropathy, Autosomal Recessive	33
53	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	37
54	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	49
55	P	NRP063	Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	48
56		PTT059	Pettigrew Syndrome	46
57		DBT087	Diabetes Insipidus, Neurohypophyseal	61
58		PNC119	Pancreatic Neuroendocrine Tumor	49
59		MNT303	Mental Retardation, X-Linked, Syndromic, Cabezas Type	30
60	c	DST030	Distal Hereditary Motor Neuropathy, Type V	28
61	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	60
62	P	GNT009	Giant Axonal Neuropathy	53
63	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	44
64		CMB026	Combined Oxidative Phosphorylation Deficiency 12	28
65	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	29
66		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	37
67	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	44
68		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	44
69		BRN048	Brain Stem Cancer	40
70		HYP530	Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity	26
71		INT319	Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	31
72		MLG077	Malignant Peripheral Nerve Sheath Tumor	60
73		ACS001	Acoustic Neuroma	61
74	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	39
75		INS023	Insensitivity to Pain, Congenital, with Anhidrosis	48
76	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	47
77		ART127	Arthrogryposis Multiplex Congenita, Neurogenic Type	37
78	P	NRD007	Neurodegeneration with Brain Iron Accumulation	45
79	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	43
80		CWC001	Cowchock Syndrome	36
81		ATH001	Athabaskan Brainstem Dysgenesis Syndrome	29
82	P	CHR654	Charcot-Marie-Tooth Disease, Axonal, Type 2e	54
83	c	ATS421	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect	17
84		CNC002	Cinca Syndrome	64
85	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	34
86	P	PRP019	Peripheral Nervous System Disease	66
87	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	52
88	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	42
89		SPN040	Spinal Cancer	41
90	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	41
91	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	41
92	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	40
93	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	38
94	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	38
95	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
96	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	36
97	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	36
98	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	36
99	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	36
100	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
101	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	34
102	P	NRP059	Neuropathy, Hereditary Motor and Sensory, Type Via	34
103	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
104	c	SPS036	Spastic Paraplegia 3	33
105	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
106	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
107	c	SPS091	Spastic Paraplegia 4	31
108	c	SPS021	Spastic Paraplegia 10	30
109	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	30
110	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
111	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	29
112	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
113	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
114	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
115	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	29
116	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	29
117	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	28
118	c	HRD186	Hereditary Spastic Paraplegia 51	28
119	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	27
120	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	27
121	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
122	c	SPS027	Spastic Paraplegia 17	27
123	c	SPS041	Spastic Paraplegia 6	25
124	c	SPS023	Spastic Paraplegia 13	24
125	c	SPS028	Spastic Paraplegia 18	22
126	c	SPS034	Spastic Paraplegia 26	22
127	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	21
128	c	SPS022	Spastic Paraplegia 12	20
129	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	20
130	c	SPS032	Spastic Paraplegia 24	20
131	c	HRD210	Hereditary Spastic Paraplegia 23	20
132	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	20
133	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	20
134	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	20
135	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	20
136	c	SPS029	Spastic Paraplegia 19	20
137	c	SPS035	Spastic Paraplegia 29	19
138	c	SPS033	Spastic Paraplegia 25	19
139	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	19
140	c	SPS080	Spastic Paraplegia 51	19
141	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	19
142	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	18
143	c	SPS026	Spastic Paraplegia 16	18
144	c	SPS161	Spastic Paraplegia 32	18
145	c	HRD188	Hereditary Spastic Paraplegia 72	18
146	c	SPS024	Spastic Paraplegia 14	17
147	c	SPS040	Spastic Paraplegia 5b	15
148	c	SPS230	Spastic Paraplegia Type 49	14
149	c	SPS165	Spastic Paraplegia 47	13
150	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	13
151	P	CHR625	Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	51
152	c	NRN040	Neuronopathy, Distal Hereditary Motor, Type Viib	26
153	P	NRV006	Nervous System Cancer	60
154	c	SPN335	Spinocerebellar Ataxia Type 1 with Axonal Neuropathy	32
155		NRD030	Neurodegeneration, Childhood-Onset, with Brain Atrophy	21
156		CRP001	Carpal Tunnel Syndrome	71
157		ENC039	Encephalopathy, Familial, with Neuroserpin Inclusion Bodies	43
158		ATX010	Ataxia Neuropathy Spectrum	39
159	c	PRM039	Primary Angiitis of the Central Nervous System	34
160	c	HRD138	Hereditary Motor and Sensory Neuropathy V	31
161		SPL051	Split Spinal Cord Malformation	26
162		NRD024	Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart	24
163		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	52
164		PRT052	Partington X-Linked Mental Retardation Syndrome	43
165	c	NRN037	Neuronopathy, Distal Hereditary Motor, Type Va	28
166		NRP049	Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux	19
167		CSY002	Coasy Protein-Associated Neurodegeneration	16
168	P	HRD021	Hereditary Sensory Neuropathy	50
169		MSS001	Masa Syndrome	47
170		MLN073	Melanosis, Neurocutaneous	40
171		MGR035	Migraine with Brainstem Aura	21
172	c	AMY091	Amyotrophic Lateral Sclerosis 1	90
173	P	CRB185	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1	49
174		MCL009	Mcleod Syndrome	48
175	c	CHR646	Charcot-Marie-Tooth Disease, Axonal, Type 2b	42
176	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	35
177	c	AMY089	Amyotrophic Lateral Sclerosis 7	31
178	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	26
179	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
180	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	14
181	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	11
182	c	TRD001	Tardbp-Related Amyotrophic Lateral Sclerosis	7
183	P	NRF023	Neurofibromatosis, Type Ii	75
184	c	NRF024	Neurofibromatosis, Type I	68
185	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	49
186		RBF002	Riboflavin Transporter Deficiency Neuronopathy	20
187		MSC077	Muscle Eye Brain Disease	45
188		CRB069	Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome	41
189	c	CHR647	Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	38
190		MHM001	Mehmo Syndrome	35
191	P	CFF008	Coffin-Siris Syndrome 1	56
192		MLT075	Multifocal Motor Neuropathy	49
193	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	47
194	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	39
195	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	34
196	c	CHR026	Charcot-Marie-Tooth Disease Type X	24
197	c	CFF011	Coffin-Siris Syndrome 6	24
198	c	FVL008	Foveal Hypoplasia 2	24
199	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	23
200	c	CFF006	Coffin-Siris Syndrome 5	23
201	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	20
202	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
203	c	CFF013	Coffin-Siris Syndrome 8	17
204	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	16
205	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
206	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	13
207	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	12
208	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
209	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
210	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
211	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
212	c	CHR572	Charcot-Marie-Tooth Disease Type 7	8
213	P	CHR071	Charcot-Marie-Tooth Disease	65
214		LKN001	Leukoencephalopathy with Vanishing White Matter	56
215		CRB151	Cerebral Creatine Deficiency Syndrome 1	51
216		NRT001	Neurotic Disorder	47
217		CHR629	Charcot-Marie-Tooth Disease and Deafness	45
218	P	ADT009	Auditory Neuropathy Spectrum Disorder	36
219	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	35
220		MNT229	Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance	28
221	c	NRN025	Neuronopathy, Distal Hereditary Motor, Type Viia	26
222	P	HYP553	Hyperphosphatasia with Mental Retardation Syndrome 3	24
223	c	FRT006	Fourth Cranial Nerve Palsy, Familial Congenital	18
224	P	PLZ001	Pelizaeus-Merzbacher Disease	64
225	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	62
226	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	57
227		ATN002	Autonomic Nervous System Disease	56
228	c	CHR627	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	55
229	c	CNT033	Central Nervous System Cancer	54
230	c	GRS014	Griscelli Syndrome, Type 2	48
231	P	OPT070	Optic Nerve Hypoplasia, Bilateral	48
232	c	MNT143	Mental Retardation, Autosomal Dominant 13	42
233	c	GRS013	Griscelli Syndrome, Type 1	39
234	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	39
235		MNT046	Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia	37
236	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	35
237	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	35
238	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	34
239	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	30
240	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	28
241		MBD001	Mbd5 Haploinsufficiency	27
242	c	MNT301	Mental Retardation, X-Linked 21	26
243	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	24
244	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	23
245		SCP005	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	19
246		SPN186	Spinal Cord Injury	66
247		TXC002	Toxic Encephalopathy	57
248		NRN004	Neuroendocrine Tumor	56
249		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	50
250		PRP066	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	49
251		CHR105	Choreoacanthocytosis	49
252		MTR007	Motor Peripheral Neuropathy	41
253	c	ADT007	Auditory Neuropathy, Autosomal Dominant, 1	30
254		NRP009	Neuropathy, Hereditary Motor and Sensory, Okinawa Type	26
255		LKN010	Leukoencephalopathy with Dystonia and Motor Neuropathy	24
256	c	NRN024	Neuronopathy, Distal Hereditary Motor, Type Vb	22
257	P	GLL022	Guillain-Barre Syndrome	66
258	P	NRN021	Neuronal Ceroid Lipofuscinosis	60
259		LKN025	Leukoencephalopathy, Hereditary Diffuse, with Spheroids	56
260	P	PRP021	Peripheral Nervous System Neoplasm	51
261	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	43
262	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	34
263		CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	32
264		MNT056	Mental Retardation, X-Linked, Syndromic, Nascimento Type	26
265	c	MNT258	Mental Retardation, X-Linked, Syndromic, Wu Type	25
266	c	NRN041	Neuronopathy, Distal Hereditary Motor, Type Iib	23
267		CRP034	Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia	23
268	c	NRN026	Neuronopathy, Distal Hereditary Motor, Type Iid	22
269	c	NRN018	Neuronopathy, Distal Hereditary Motor, Type Iic	21
270	c	NRN035	Neuronopathy, Distal Hereditary Motor, Type Iia	20
271		CHR639	Chromosome Xp11.22 Duplication Syndrome	14
272		EPD081	Epidermoid Brain Cyst	13
273	P	NMN002	Niemann-Pick Disease	61
274		BLM002	Bulimia Nervosa	61
275	c	NMN016	Niemann-Pick Disease, Type B	58
276	P	CTS001	Cutis Laxa	58
277	c	NMN013	Niemann-Pick Disease, Type a	57
278		ERY029	Erythermalgia, Primary	57
279		BRJ001	Borjeson-Forssman-Lehmann Syndrome	54
280		CNV004	Canavan Disease	53
281	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
282	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
283	c	CTS045	Cutis Laxa, Autosomal Dominant 1	49
284		WLS003	Wilson-Turner X-Linked Mental Retardation Syndrome	46
285		LBS001	Lubs X-Linked Mental Retardation Syndrome	44
286		NRF008	Neurofibromatosis-Noonan Syndrome	43
287	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	40
288	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	39
289	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
290	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
291	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
292	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	32
293	c	ACQ027	Acquired Cutis Laxa	31
294		SCP002	Scapuloperoneal Spinal Muscular Atrophy	30
295	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
296	c	CTS041	Cutis Laxa, Autosomal Dominant 3	27
297		RJB002	Rajab Interstitial Lung Disease with Brain Calcifications	25
298	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	24
299	c	ATP003	Atp6v0a2-Related Cutis Laxa	22
300		FCL042	Facial Onset Sensory and Motor Neuronopathy	21
301		RTN207	Retinopathy, Pigmentary, and Mental Retardation	19
302	c	EFM001	Efemp2-Related Cutis Laxa	18
303	c	LTB003	Ltbp4-Related Cutis Laxa	17
304	P	GRN052	Grin2b-Related Neurodevelopmental Disorder	10
305	c	FBL003	Fbln5-Related Cutis Laxa	9
306		PCK003	Pick Disease of Brain	64
307		MTR014	Motor Neuron Disease	60
308		SNS003	Sensory Peripheral Neuropathy	56
309		CNT019	Central Neurocytoma	47
310	c	GNT049	Giant Axonal Neuropathy 1, Autosomal Recessive	42
311	c	CRD226	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive	37
312		WCK001	Wieacker-Wolff Syndrome	35
313	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	33
314	c	DST027	Distal Hereditary Motor Neuropathy, Type Ii	31
315		RYN006	Raynaud-Claes Syndrome	27
316		CNG102	Congenital Hypomyelination Neuropathy	20
317		ALP025	Alopecia, Epilepsy, Pyorrhea, Mental Subnormality	11
318	P	VSC017	Visceral Neuropathy Familial	8
319	P	MDL005	Medulloblastoma	76
320	P	BRN035	Brain Stem Glioma	52
321		NRV004	Nerve Compression Syndrome	39
322	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	33
323	c	SPN430	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1	31
324		NRP010	Neuropathy, Hereditary Motor and Sensory, Russe Type	30
325	c	MNT296	Mental Retardation, X-Linked, Syndromic 34	29
326		PDT045	Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections	27
327		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	24
328	c	MNT305	Mental Retardation, X-Linked 12	21
329		MCR046	Microcephaly Brain Defect Spasticity Hypernatremia	13
330		ACC001	Accessory Nerve Disease	13
331		HYP028	Hypoglossal Nerve Disease	12
332		CRN305	Corneal Neuropathic Disease	6
333		NRF007	Neurofibroma	66
334		DBT010	Diabetic Neuropathy	60
335	P	EPS003	Episodic Ataxia	59
336	c	EPS035	Episodic Ataxia, Type 2	57
337		LGS001	Legius Syndrome	51
338	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	47
339	c	EPS017	Episodic Ataxia, Type 6	39
340	c	EPS037	Episodic Ataxia, Type 4	31
341	c	HYP441	Hyperphosphatasia with Mental Retardation Syndrome 1	31
342		MNT228	Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type	31
343	c	EPS015	Episodic Ataxia, Type 7	30
344	c	EPS014	Episodic Ataxia, Type 3	25
345	c	EPS034	Episodic Ataxia, Type 5	23
346	c	EPS033	Episodic Ataxia, Type 8	20
347	c	SPN355	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3	20
348		VGS001	Vagus Nerve Disease	16
349		ANG067	Angioma, Hereditary Neurocutaneous	15
350		ANR007	Anorexia Nervosa	68
351		NRM005	Neuromuscular Disease	61
352		NRN001	Neuroendocrine Carcinoma	53
353		CRB139	Cerebellar Ataxia, Nonprogressive, with Mental Retardation	38
354	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	37
355		CRN033	Cranial Nerve Malignant Neoplasm	37
356	c	AMY045	Amyotrophic Lateral Sclerosis 4, Juvenile	35
357	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	31
358	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	28
359	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	28
360	P	NRD034	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant	26
361	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	26
362		NRD057	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	26
363	c	NRP036	Neuropathy, Hereditary Sensory, Type if	25
364	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	22
365		OLF001	Olfactory Nerve Disease	21
366		PRT015	Partial Third-Nerve Palsy	21
367		SYN062	Syncope, Familial Vasovagal	21
368	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	20
369		SPN350	Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration	19
370		SPS197	Spastic Paraplegia with Neuropathy and Poikiloderma	18
371		SYN092	Syndromic X-Linked Intellectual Disability Cabezas Type	18
372		SND001	Sandhoff Disease	65
373	c	LPD015	Lipodystrophy, Familial Partial, Type 2	60
374		ART141	Arteriovenous Malformations of the Brain	59
375	P	FML012	Familial Partial Lipodystrophy	52
376	c	LPD021	Lipodystrophy, Familial Partial, Type 3	51
377	c	LPD019	Lipodystrophy, Partial, Acquired	44
378	c	LPD040	Lipodystrophy, Familial Partial, Type 1	43
379		NRN016	Neuronal Migration Disorders	40
380		AMY086	Amyotrophy, Hereditary Neuralgic	38
381		MNT310	Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type	37
382	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
383		CNT007	Central Nervous System Tuberculosis	35
384	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	34
385	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	33
386		JHN004	Johnson Neuroectodermal Syndrome	32
387	c	NRP062	Neuropathy - Hereditary	27
388	c	LPD036	Lipodystrophy, Familial Partial, Type 6	27
389	c	LPD044	Lipodystrophy, Familial Partial, Type 7	26
390	c	LPD030	Lipodystrophy, Familial Partial, Type 5	25
391	c	NRN027	Neuronopathy, Distal Hereditary Motor, Type I	23
392		RLN001	Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked	19
393		DFN305	Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy	19
394	c	MNT196	Mental Retardation, X-Linked 92	18
395	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
396		PNF001	Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome	7
397	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
398	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	44
399	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
400	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
401	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
402	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
403		TTH004	Tethered Spinal Cord Syndrome	42
404	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
405	P	MNT319	Mental Retardation, Autosomal Dominant 20	41
406		GNC003	Geniculate Herpes Zoster	40
407	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	39
408	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
409	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
410	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
411		MLN001	Melanotic Neuroectodermal Tumor	34
412	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
413	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
414	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	32
415		LJN003	Lujan-Fryns Syndrome	32
416	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
417	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
418		CRB024	Cerebral Neuroblastoma	32
419	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
420	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
421		CRT070	Cortical Dysplasia, Complex, with Other Brain Malformations 1	31
422	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
423	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	30
424	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
425	c	MNT155	Mental Retardation, Autosomal Recessive 2	29
426	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
427	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	29
428	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	29
429	c	NRP043	Neuropathy, Hereditary Motor and Sensory, Type Vib	28
430	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	28
431	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
432	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
433	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
434	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	27
435	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	27
436	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	25
437	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	24
438		SLW005	Slowed Nerve Conduction Velocity, Autosomal Dominant	20
439	c	MNT200	Mental Retardation, X-Linked 97	19
440		TRC015	Trochlear Nerve Disease	13
441		ADS006	Aids - Neurological Complications	5
442		LGH007	Leigh Syndrome	67
443		MBS002	Moebius Syndrome	55
444		OLF005	Olfactory Neuroblastoma	52
445	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	46
446		NRN005	Neuronal Ceroid-Lipofuscinoses	46
447	P	ATS366	Autism X-Linked 2	44
448	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	44
449	c	HRD094	Hereditary Motor and Sensory Neuropathy, Type Iic	42
450		BRN139	Brain Small Vessel Disease 1 with or Without Ocular Anomalies	42
451		CRN031	Cranial Nerve Disease	41
452	P	CHR453	Charcot-Marie-Tooth Hereditary Neuropathy	39
453	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	39
454		GLT018	Glut1 Deficiency Syndrome 1	38
455		OPT008	Optic Nerve Neoplasm	38
456	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
457		NRS005	Neurosarcoidosis	36
458	P	CNT037	Central Nervous System Germinoma	36
459	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	33
460		GLL028	Gillespie Syndrome	33
461		MNT302	Mental Retardation, X-Linked, Syndromic, Christianson Type	31
462		AMY005	Amyloid Neuropathy	30
463		PRM284	Primitive Neuroectodermal Tumor of the Cervix Uteri	30
464	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
465	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	27
466		THR010	Third Cranial Nerve Disease	27
467	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	27
468	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	27
469	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	27
470	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	27
471		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	26
472	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	26
473	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	26
474	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	26
475	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	25
476	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	25
477	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	25
478	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	25
479	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	25
480	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	24
481	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	24
482	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	24
483	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	24
484	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	24
485	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	24
486	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	24
487	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	24
488	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	24
489	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	24
490	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	23
491	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	23
492	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	23
493	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	23
494	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	23
495	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	23
496		RCT005	Rectum Neuroendocrine Neoplasm	23
497	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	23
498	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	22
499	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	22
500		NRG006	Neurogenic Thoracic Outlet Syndrome	22
501	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	21
502		MCR123	Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy	20
503	c	EPL238	Epileptic Encephalopathy, Early Infantile, 73	19
504	c	EPL239	Epileptic Encephalopathy, Early Infantile, 74	18
505	c	EPL237	Epileptic Encephalopathy, Early Infantile, 72	18
506		SPN045	Spinal Cord Primitive Neuroectodermal Neoplasm	10
507		LWG004	Low-Grade Neuroendocrine Tumor of the Corpus Uteri	8
508		LPS008	Lupus - Neurological Sequelae	6
509		INT030	Intracranial Aneurysm	59
510		CYS005	Cysticercosis	59
511		ALX003	Alexander Disease	58
512		TRM010	Traumatic Brain Injury	56
513		NRL004	Neuroleptic Malignant Syndrome	52
514	P	NRB010	Neuroblastoma 1	51
515		CNV002	Conversion Disorder	42
516		NRF003	Neurofibrosarcoma	42
517		BKR002	Baker-Gordon Syndrome	40
518		ALP041	Alopecia, Neurologic Defects, and Endocrinopathy Syndrome	38
519	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	38
520	c	CHR653	Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	37
521		BRN005	Brain Glioblastoma Multiforme	36
522	c	CHR656	Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	36
523		CRT081	Cortical Dysplasia, Complex, with Other Brain Malformations 7	35
524	c	TRC101	Trichothiodystrophy 4, Nonphotosensitive	33
525	c	PRM195	Primary Lateral Sclerosis, Juvenile	31
526	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	31
527		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	30
528		VST006	Vestibulocochlear Nerve Disease	28
529		WSM002	Waisman Syndrome	26
530	c	NRP065	Neuropathy, Congenital Hypomyelinating, 3	24
531		MNT307	Mental Retardation, X-Linked, Associated with Fragile Site Fraxe	23
532	c	TRC103	Trichothiodystrophy 5, Nonphotosensitive	23
533	c	CRB195	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3	20
534	c	TRC117	Trichothiodystrophy 6, Nonphotosensitive	19
535	c	NRB015	Neuroblastoma 2	19
536		CMP082	Complex Cortical Dysplasia with Other Brain Malformations	16
537	c	NRN042	Neuronopathy, Distal Hereditary Motor, Type Ix	14
538		LYM055	Lyme Disease - Neurological Complications	7
539	P	HNT016	Huntington Disease	73
540		MLT157	Multiple System Atrophy 1	72
541	P	NRV007	Nervous System Disease	71
542		OBS002	Obsessive-Compulsive Disorder	68
543	c	NMN015	Niemann-Pick Disease, Type C1	67
544	c	CNT035	Central Nervous System Disease	65
545	P	MCH002	Machado-Joseph Disease	63
546		ACT049	Acute Disseminated Encephalomyelitis	56
547	c	HNT010	Huntington Disease-Like 1	50
548		EPL118	Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation	46
549	P	GST047	Gastrointestinal Neuroendocrine Tumor	41
550		CHR174	Christianson Syndrome	36
551	P	FRT001	Fourth Cranial Nerve Palsy	32
552		ABC001	Abcd Syndrome	32
553		46X053	46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy	29
554	c	MNT210	Mental Retardation, Autosomal Recessive 42	29
555		STM015	Stomatin-Deficient Cryohydrocytosis with Neurologic Defects	27
556	c	NRP064	Neuropathy, Congenital Hypomyelinating, 2	27
557	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	27
558	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	27
559		SPN043	Spinal Cord Glioma	26
560	c	MNT236	Mental Retardation, Autosomal Dominant 39	26
561	c	JVN015	Juvenile Huntington Disease	26
562	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	26
563		PRN033	Paraneoplastic Neurologic Disorders	25
564	c	SPS020	Spastic Paraplegia 1	25
565		PRP075	Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss	24
566		CNG382	Congenital Cataracts, Hearing Loss, and Neurodegeneration	24
567	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	24
568	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	24
569		ALP091	Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	23
570		HMR018	Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts	23
571	c	NRP055	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive	22
572	c	GNT040	Giant Axonal Neuropathy 2, Autosomal Dominant	22
573		NRL023	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset	22
574		SPN026	Spinal Cord Lymphoma	21
575		NRD031	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination	21
576		STC002	Stocco Dos Santos X-Linked Mental Retardation Syndrome	21
577		CL4009	Col4a1-Related Familial Vascular Leukoencephalopathy	20
578	c	MCH013	Machado-Joseph Disease Type 3	19
579	c	MCH012	Machado-Joseph Disease Type 1	19
580	c	MCH014	Machado-Joseph Disease Type 2	19
581		MNT300	Mental Retardation, X-Linked, with Panhypopituitarism	18
582	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	17
583		CYP001	Cyprus Facial Neuromusculoskeletal Syndrome	13
584	c	CL4005	Col4a1-Related Brain Small-Vessel Disease	7
585		CRV044	Cervical Hypertrichosis Peripheral Neuropathy	4
586	P	MTC003	Metachromatic Leukodystrophy	70
587		LYM017	Lyme Disease	70
588		CRT072	Creutzfeldt-Jakob Disease	67
589	P	SPN429	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2	58
590		ATY005	Atypical Teratoid Rhabdoid Tumor	57
591		SPN041	Spinal Cord Disease	54
592		NRS003	Neurosyphilis	46
593	c	SPN311	Spinocerebellar Ataxia 13	46
594	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	44
595		SPR008	Supratentorial Primitive Neuroectodermal Tumor	43
596	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	41
597	P	CRN035	Cranial Nerve Palsy	40
598		SPR066	Superficial Siderosis	40
599	P	CRB059	Cerebellar Degeneration	40
600		NRG003	Neurogenic Arthropathy	37
601		WHT019	White-Sutton Syndrome	36
602	c	ATS203	Autosomal Dominant Non-Syndromic Intellectual Disability	35
603	c	SPN247	Spinocerebellar Ataxia Type 19/22	34
604	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	34
605		TRS001	Tarsal Tunnel Syndrome	34
606	c	CFF010	Coffin-Siris Syndrome 3	34
607	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	33
608		PRT055	Prieto X-Linked Mental Retardation Syndrome	32
609		BRN049	Brain Tumor, Childhood	32
610		ATM098	Autoimmune Peripheral Neuropathy	32
611	P	NNS031	Non-Syndromic Intellectual Disability	32
612		XGB001	Xia-Gibbs Syndrome	30
613	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
614		OCL003	Oculomotor Nerve Paralysis	28
615	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
616		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	27
617	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	27
618	c	MNT262	Mental Retardation, Autosomal Dominant 42	27
619	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	27
620		PDT043	Pediatric Acute-Onset Neuropsychiatric Syndrome	27
621	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	27
622	c	MNT270	Mental Retardation, Autosomal Recessive 53	27
623		MNT237	Mental Retardation with Language Impairment and with or Without Autistic Features	27
624	c	PRM015	Primary Cerebellar Degeneration	27
625	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
626	c	MNT295	Mental Retardation, X-Linked, Syndromic 33	25
627	c	SPN102	Spinocerebellar Ataxia 30	24
628	c	CRB136	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	23
629		CRT067	Cortical Dysplasia, Complex, with Other Brain Malformations 2	22
630		CRT071	Cortical Dysplasia, Complex, with Other Brain Malformations 4	22
631	c	SPN107	Spinocerebellar Ataxia 9	22
632		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	21
633		ARM006	Armfield X-Linked Mental Retardation Syndrome	21
634		CRT068	Cortical Dysplasia, Complex, with Other Brain Malformations 3	20
635		CRT073	Cortical Dysplasia, Complex, with Other Brain Malformations 5	20
636		RDL001	Radial Nerve Lesion	20
637		CRT074	Cortical Dysplasia, Complex, with Other Brain Malformations 6	20
638	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	19
639		NRF025	Neurofibromatosis, Type Iii, Mixed Central and Peripheral	19
640		XLN134	X-Linked Intellectual Disability, Siderius Type	18
641		CHL057	Childhood Brain Stem Glioma	17
642		PCD002	Pcdh19-Related Female-Limited Epilepsy	16
643		DFF020	Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia	16
644		HND013	Handl Syndrome	15
645		PRN063	Peroneal Nerve, Accessory Deep	15
646		CTR173	Cataract, Ataxia, Short Stature, and Mental Retardation	15
647		HGH030	High-Grade Neuroendocrine Carcinoma of the Cervix Uteri	12
648		XLN174	X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	12
649	c	GRD008	Grid2-Related Spinocerebellar Ataxia	12
650		LNG002	Lung Combined Large Cell Neuroendocrine Carcinoma	11
651		NRV002	Nerve Fibre Bundle Defect	11
652		SYN083	Syndromic X-Linked Intellectual Disability Shashi Type	10
653		TTL002	Total Third-Nerve Palsy	9
654		MLG073	Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath	8
655		HGH029	High-Grade Neuroendocrine Carcinoma of the Corpus Uteri	8
656		MLG028	Malignant Neoplasm of Acoustic Nerve	8
657	c	OPT030	Optic Nerve Hypoplasia, Familial Bilateral	8
658		MCR286	Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome	7
659		SPN022	Spinal Cord Neuroblastoma	7
660	c	ADL022	Adult Central Nervous System Primitive Neuroectodermal Neoplasm	6
661		CHL022	Childhood Central Nervous System Primitive Neuroectodermal Neoplasm	6
662		ART040	Arthrogryposis Epileptic Seizures Migrational Brain Disorder	4
663		TMR014	Tumor of Cranial and Spinal Nerves	4
664		MBS003	Moebius Axonal Neuropathy Hypogonadism	3
665		ACR008	Acrocallosal Syndrome	60
666	c	GM1007	Gm1 Gangliosidosis	58
667		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	56
668	P	SJG002	Sjogren-Larsson Syndrome	55
669		BLL003	Bell's Palsy	53
670	c	MCR256	Microphthalmia, Syndromic 9	52
671	c	GM2006	Gm2 Gangliosidosis	49
672	P	GNG009	Gangliosidosis	47
673	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	44
674		ASY002	Asymptomatic Neurosyphilis	43
675	P	SPS133	Spastic Paraplegia 2, X-Linked	42
676	c	MCR263	Microphthalmia, Syndromic 1	40
677	c	MCR261	Microphthalmia, Syndromic 2	40
678		FMR003	Femoral Neuropathy	39
679		BRN036	Brain Stem Infarction	38
680	c	BRT038	Baraitser-Winter Syndrome 1	38
681	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	37
682	P	BRT040	Baraitser-Winter Syndrome	37
683	c	SPN094	Spinocerebellar Ataxia 18	37
684		SCH074	Schuurs-Hoeijmakers Syndrome	36
685	c	ADL054	Adult Brain Stem Glioma	36
686	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
687	c	CHR608	Charcot-Marie-Tooth Disease, Axonal, Type 2p	34
688		TBS001	Tabes Dorsalis	33
689		MNT192	Mental Retardation, X-Linked, Syndromic, Hedera Type	33
690		BRK002	Birk-Barel Syndrome	32
691	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	32
692	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	31
693	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	30
694	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	29
695	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	29
696	c	SPS092	Spastic Paraplegia 11	29
697	c	BRT039	Baraitser-Winter Syndrome 2	28
698	c	MNT157	Mental Retardation, Autosomal Dominant 18	28
699	c	MCR245	Microphthalmia, Syndromic 8	27
700	c	MCR312	Microphthalmia, Syndromic 10	26
701	c	MNT273	Mental Retardation, Autosomal Dominant 44	26
702	c	MCR212	Microphthalmia, Syndromic 12	26
703	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	26
704	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	24
705	c	MCR228	Microphthalmia, Syndromic 13	24
706	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	23
707		MGL011	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation	23
708	c	MCR217	Microphthalmia, Syndromic 11	22
709		CRT082	Cortical Dysplasia, Complex, with Other Brain Malformations 8	22
710	c	GLY108	Glycosylphosphatidylinositol Biosynthesis Defect 18	21
711	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	21
712		KHR001	Kahrizi Syndrome	21
713	c	SPS062	Spastic Paraplegia 34, X-Linked	21
714		TRT002	Tertiary Neurosyphilis	21
715	c	CRB141	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4	20
716		DND017	Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures	20
717	P	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	20
718	c	NRB014	Neuroblastoma 3	19
719		NRD051	Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness	18
720		BRN011	Brain Stem Astrocytic Neoplasm	17
721		LCL011	Localized Hypertrophic Neuropathy	16
722	c	GM2001	Gm2 Gangliosidosis, 0 Variant	11
723	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	9
724		CHL055	Childhood Germ Cell Brain Tumor	8
725	c	SJG003	Sjogren-Larsson-Like Syndrome	7
726		STR067	Stroke, Ischemic	82
727	P	MNN013	Meningitis	69
728		DBT083	Diabetes Mellitus, Permanent Neonatal	60
729	P	TRC102	Trichothiodystrophy 1, Photosensitive	59
730		PRG009	Progressive Multifocal Leukoencephalopathy	57
731		THR013	Thoracic Outlet Syndrome	56
732		BRN071	Brain Injury	55
733		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	49
734		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
735		RSS026	Roussy-Levy Hereditary Areflexic Dystasia	49
736		CNT025	Central Pontine Myelinolysis	48
737		NRL002	Neurilemmomatosis	47
738	P	CHR342	Chiari Malformation	46
739		NRN008	Neuronal Intranuclear Inclusion Disease	44
740		HLS003	Helsmoortel-Van Der Aa Syndrome	43
741		ADP007	Adie Pupil	42
742	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	41
743	c	CFF009	Coffin-Siris Syndrome 4	40
744	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	39
745	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	37
746	P	MYC078	Myoclonus and Ataxia	37
747	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	37
748	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	36
749		MLG041	Malignant Triton Tumor	36
750	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	36
751		CRN034	Cranial Nerve Neoplasm	35
752	c	CHR091	Chronic Meningitis	33
753		SPN185	Spinal Cord Infarction	33
754	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
755		TMT003	Temtamy Syndrome	32
756	c	MCR329	Microcephaly, Autosomal Dominant	31
757	c	CFF007	Coffin-Siris Syndrome 2	30
758	c	MNT185	Mental Retardation, Autosomal Dominant 7	30
759	c	MNT212	Mental Retardation, Autosomal Dominant 26	28
760	c	MNT241	Mental Retardation, Autosomal Dominant 32	28
761	c	MNT246	Mental Retardation, Autosomal Dominant 38	28
762	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	28
763	P	SPN042	Spinal Cord Ependymoma	28
764	c	CNT068	Central Pain Syndrome	28
765	c	MNT298	Mental Retardation, X-Linked, Syndromic, 35	27
766	P	MRL001	Meralgia Paresthetica	27
767		MDR004	Madras Motor Neuron Disease	27
768	c	MNT226	Mental Retardation, Autosomal Dominant 31	27
769	c	MNT324	Mental Retardation, Autosomal Dominant 49	26
770	c	MNT222	Mental Retardation, Autosomal Dominant 29	26
771	c	MNT214	Mental Retardation, Autosomal Dominant 24	26
772	c	MNT239	Mental Retardation, Autosomal Dominant 35	26
773	c	MNT184	Mental Retardation, Autosomal Dominant 11	26
774	c	MNT325	Mental Retardation, Autosomal Recessive 61	26
775	c	MNT322	Mental Retardation, Autosomal Dominant 27	26
776	c	MNT211	Mental Retardation, Autosomal Dominant 23	26
777	c	MNT150	Mental Retardation, Autosomal Recessive 15	26
778	c	MNT219	Mental Retardation, Autosomal Dominant 30	25
779	c	MNT238	Mental Retardation, Autosomal Dominant 34	25
780	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	25
781	c	MNT321	Mental Retardation, Autosomal Recessive 37	25
782		ENC047	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum	25
783	c	MNT186	Mental Retardation, Autosomal Dominant 10	25
784	c	MNT272	Mental Retardation, Autosomal Dominant 41	25
785	c	MNT245	Mental Retardation, Autosomal Dominant 36	25
786	c	MNT179	Mental Retardation, Autosomal Dominant 21	24
787	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	24
788	c	MNT154	Mental Retardation, Autosomal Recessive 14	24
789		CLN039	Cln4 Disease	24
790	c	MCR269	Microcephaly 15, Primary, Autosomal Recessive	24
791	c	MNT207	Mental Retardation, X-Linked, Syndromic 32	23
792		OVR005	Ovarian Large-Cell Neuroendocrine Carcinoma	23
793		NRD039	Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language	23
794	c	HYP580	Hyperphosphatasia with Mental Retardation Syndrome 4	22
795	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	22
796		PRM183	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	22
797		EPL170	Epilepsy-Aphasia Spectrum	21
798	c	MNT151	Mental Retardation, Autosomal Recessive 18	21
799	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	21
800		NRD026	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies	21
801	c	MNT240	Mental Retardation, Autosomal Dominant 33	21
802	c	CHR681	Charcot-Marie-Tooth Disease, Demyelinating, Type 1g	21
803	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	21
804		NRD040	Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter	20
805	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	19
806	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	19
807	P	BRN030	Brain Ependymoma	17
808	c	MCR368	Microcephaly 24, Primary, Autosomal Recessive	17
809		GLS008	Glossopharyngeal Nerve Disease	17
810	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	17
811		KRK002	Karak Syndrome	16
812		PNC065	Pinched Nerve	16
813		MNT057	Mental Retardation, X-Linked, Syndromic, Raymond Type	16
814	c	MCR372	Microcephaly 25, Primary, Autosomal Recessive	15
815	c	GSR001	Gosr2-Related Progressive Myoclonus Ataxia	15
816		CRP036	Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	14
817		OCL031	Oculo-Cerebral Dysplasia	13
818	c	CHR161	Chiari Malformation Type 3	11
819	c	MRL006	Meralgia Paraesthetica, Familial	10
820		SPN003	Spinal Cord Dermoid Cyst	9
821	c	CHR162	Chiari Malformation Type 4	8
822		ICH006	Ichthyosis Alopecia Eclabion Ectropion Mental Retardation	6
823		PLT009	Pili Torti Developmental Delay Neurological Abnormalities	5
824		BRN069	Brain and Spinal Tumors	5
825		GTD002	Gatad2b-Associated Neurodevelopmental Disorder	4
826	P	EPL164	Epilepsy	72
827		CRB037	Cerebral Palsy	71
828	P	MCR115	Microvascular Complications of Diabetes 5	70
829		GLL008	Gilles De La Tourette Syndrome	67
830	c	MCR129	Microvascular Complications of Diabetes 1	66
831	P	FRD012	Friedreich Ataxia 1	66
832	c	MCR113	Microvascular Complications of Diabetes 3	58
833	c	EPS042	Episodic Ataxia, Type 1	58
834	c	GM1004	Gm1-Gangliosidosis, Type I	56
835		PRN023	Prion Disease	54
836	P	PTT014	Pitt-Hopkins Syndrome	54
837	P	TRN034	Transverse Myelitis	53
838		WRN002	Wernicke-Korsakoff Syndrome	52
839	P	PRV002	Periventricular Nodular Heterotopia	50
840	c	GM2005	Gm2-Gangliosidosis, Ab Variant	49
841	P	LSS002	Lissencephaly	49
842	c	CHR579	Chiari Malformation Type Ii	49
843		ISC002	Ischemic Optic Neuropathy	48
844		PPL058	Papilloma of Choroid Plexus	48
845	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
846	P	GLT035	Glutaric Acidemia I	46
847	c	MCR120	Microvascular Complications of Diabetes 7	46
848		CRB150	Cerebral Creatine Deficiency Syndrome 2	45
849	c	ACT159	Acute Transverse Myelitis	45
850	c	MCR130	Microvascular Complications of Diabetes 6	43
851	c	MCR133	Microvascular Complications of Diabetes 4	43
852	c	BNG023	Benign Familial Infantile Epilepsy	43
853	c	MCR112	Microvascular Complications of Diabetes 2	42
854		CRB033	Cerebral Degeneration	41
855		CDQ001	Cauda Equina Syndrome	40
856		PLX002	Plexiform Neurofibroma	39
857		DYS006	Dysembryoplastic Neuroepithelial Tumor	36
858		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	35
859	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	34
860	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	33
861	c	SPN105	Spinocerebellar Ataxia 4	33
862	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	33
863		HNM002	Hinman Syndrome	31
864		MLS013	Miles-Carpenter Syndrome	31
865		SML004	Small Intestine Neuroendocrine Neoplasm	31
866		WYB002	Wyburn-Mason Syndrome	31
867		HYP241	Hypermethioninemia Due to Adenosine Kinase Deficiency	29
868	c	ATS204	Autosomal Recessive Non-Syndromic Intellectual Disability	28
869	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	27
870		MTR031	Motor Neuro-Ophthalmic Disorders	27
871	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	27
872		NRP048	Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration	26
873	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	26
874		TRG004	Trigeminal Nerve Neoplasm	25
875	c	PTT030	Pitt-Hopkins-Like Syndrome 2	25
876	P	MNT198	Mental Retardation, X-Linked 98	25
877		OLF004	Olfactory Nerve Neoplasm	25
878	c	FRD006	Friedreich Ataxia 2	24
879	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	22
880		MNT266	Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects	22
881	c	MNT191	Mental Retardation, X-Linked, Syndromic 17	22
882		MNT320	Mental Retardation, Autosomal Dominant 6, with or Without Seizures	22
883	c	NRD041	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive	21
884		MNT283	Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly	19
885		ACT231	Acute Flaccid Myelitis	19
886		MNT201	Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	19
887		FLL034	Fallot Complex with Severe Mental and Growth Retardation	19
888		NRD059	Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy	18
889		CNT029	Central Nervous System Endodermal Sinus Tumor	18
890		NRD042	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	18
891		MCR333	Microcephaly, Seizures, Spasticity, and Brain Calcifications	18
892	c	GLT029	Glutaric Acidemia Type Iii	17
893		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	17
894	c	PTT042	Pitt-Hopkins-Like Syndrome	17
895	c	VSC054	Visceral Neuropathy, Familial, Autosomal Recessive	17
896		DPB002	Deep Brain Stimulation for Movement Disorders	16
897		MNT257	Mental Retardation, X-Linked, with Craniofacial Dysmorphism	16
898		ABD008	Abidi X-Linked Mental Retardation Syndrome	16
899		SCT004	Scott Bryant Graham Syndrome	16
900		CHL003	Childhood Spinal Cord Tumor	16
901		LRY013	Laryngeal Neuroendocrine Tumor	16
902		MTR078	Motor Neuropathy, Peripheral, with Dysautonomia	15
903		BNP001	Bone Peripheral Neuroepithelioma	15
904		ALP067	Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	15
905		CRN293	Craniosynostosis-Mental Retardation-Clefting Syndrome	14
906	c	PRV013	Periventricular Nodular Heterotopia 3	13
907		IDP022	Idiopathic Spinal Cord Herniation	13
908	c	VSC056	Visceral Neuropathy, Familial, Autosomal Dominant	11
909		SPN007	Spinal Cord Oligodendroglioma	11
910		FCL002	Facial Nerve Neoplasm	11
911		XLN197	X-Linked Intellectual Disability-Plagiocephaly Syndrome	11
912		SYN081	Syndromic X-Linked Intellectual Disability Abidi Type	11
913	c	ATS388	Autosomal Dominant Non-Syndromic Intellectual Disability 6	10
914		BRN025	Brainstem Intraparenchymal Clear Cell Meningioma	10
915		CNG458	Congenital Abducens Nerve Palsy	10
916		ANL010	Anal Neuroendocrine Tumor	9
917		SYN090	Syndromic X-Linked Intellectual Disability Turner Type	9
918		VGS002	Vagus Nerve Neoplasm	9
919		ADL021	Adult Brainstem Gliosarcoma	9
920		ADL035	Adult Spinal Cord Glioblastoma Multiforme	9
921		BLT005	Bilateral Meningioma of Optic Nerve	8
922	P	MCR373	Mecr-Related Neurologic Disorder	7
923		TRC009	Trochlear Nerve Neoplasm	7
924		CRN032	Cranial Nerve Iii Tumor	7
925		PRM283	Primitive Neuroectodermal Tumor of the Corpus Uteri	7
926		ADL003	Adult Brainstem Mixed Glioma	7
927		MLG027	Malignant Oculomotor Nerve Tumor	7
928		CLS051	Classic Neuroendocrine Tumor of Appendix	7
929		HYP079	Hypoglossal Nerve Neoplasm	6
930		GLS002	Glossopharyngeal Nerve Neoplasm	6
931		ABD001	Abducens Nerve Neoplasm	6
932		SPN001	Spinal Accessory Nerve Neoplasm	6
933		CHL005	Childhood Mediastinal Neurogenic Tumor	6
934		ALZ051	Alzheimer Disease Without Neurofibrillary Tangles	6
935	c	SCN040	Secondary Acute Transverse Myelitis	6
936	c	KCN020	Kcnt1-Related Epilepsy	5
937	P	BNG037	Benign Angiitis of the Central Nervous System	5
938		ARN002	Arnold Stickler Bourne Syndrome	5
939		VSC023	Vasculitis Syndromes of the Central and Peripheral Nervous Systems	5
940		NRL012	Neurological Manifestations of Pompe Disease	4
941		THM007	Thumb Stiff Brachydactyly Mental Retardation	4
942	c	DPD002	Depdc5-Related Epilepsy	3
943		PST045	Post-Streptococcal Neurologic Disorders	3
944		CNT097	Central Hypoventilation Syndrome, Congenital	65
945	P	ANG001	Angelman Syndrome	64
946		STF001	Stiff-Person Syndrome	64
947	P	GLM040	Glioma Susceptibility 1	63
948	P	LTR001	Lateral Sclerosis	60
949		TRG002	Trigeminal Neuralgia	60
950	c	SPN294	Spinocerebellar Ataxia 1	59
951		BRN004	Brain Edema	59
952	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	53
953		SPN020	Spondylosis	52
954		PRR007	Perry Syndrome	51
955	P	RSM001	Rasmussen Encephalitis	50
956	c	MGL009	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	48
957		OPT054	Opitz-Kaveggia Syndrome	48
958	P	PRN026	Porencephaly	48
959	P	OLV001	Olivopontocerebellar Atrophy	48
960		ENC055	Encephalopathy, Ethylmalonic	48
961		ACR012	Aicardi Syndrome	47
962		BRC010	Brachial Plexus Lesion	47
963		PNN005	Panencephalitis, Subacute Sclerosing	46
964		MNN028	Mononeuropathy of the Median Nerve, Mild	46
965	P	LSS036	Lissencephaly, X-Linked, 1	44
966		OPT007	Optic Nerve Glioma	44
967		LTR003	Lateral Medullary Syndrome	43
968		IFP001	Ifap Syndrome with or Without Bresheck Syndrome	42
969	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	39
970	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	39
971		NRM006	Neuromuscular Junction Disease	38
972		BRC011	Brachial Plexus Neuropathy	37
973	P	SPS008	Spastic Ataxia	37
974		AMN007	Aminoacylase 1 Deficiency	37
975	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
976	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
977		KFM001	Kaufman Oculocerebrofacial Syndrome	36
978		SMT020	Smith-Kingsmore Syndrome	35
979	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	35
980	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	35
981	c	GM1006	Gm1-Gangliosidosis, Type Iii	34
982	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	34
983		NRF016	Neurofibromatosis, Familial Spinal	33
984		ENC038	Encephalopathy, Progressive, with or Without Lipodystrophy	33
985	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	33
986		NRT011	Neurotrophic Keratopathy	32
987	c	FML084	Familial Porencephaly	31
988		PDN001	Pudendal Neuralgia	31
989		ULN001	Ulnar Neuropathy	31
990		MCR025	Microhydranencephaly	30
991		GRN004	Granulomatous Amebic Encephalitis	30
992		NRD037	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies	29
993	c	MNT158	Mental Retardation, Autosomal Dominant 22	29
994	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	28
995	c	MNT183	Mental Retardation, Autosomal Recessive 36	28
996	P	CNT044	Central Nervous System Primitive Neuroectodermal Neoplasm	28
997	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	27
998	c	MNT248	Mental Retardation, X-Linked 102	27
999	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
1000		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	27
1001		PRN008	Peroneal Nerve Paralysis	27
1002	P	DST101	Distal Hereditary Motor Neuropathies	26
1003	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	26
1004		HRT037	Heart and Brain Malformation Syndrome	26
1005	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	26
1006		TNN015	Tonne-Kalscheuer Syndrome	26
1007	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	26
1008	c	HYP697	Hyperphosphatasia with Mental Retardation Syndrome 6	26
1009		PRF003	Piriformis Syndrome	26
1010		SPR032	Superficial Siderosis of the Central Nervous System	26
1011		MNT290	Mental Retardation, X-Linked 99, Syndromic, Female-Restricted	25
1012		ANT066	Anterior Cutaneous Nerve Entrapment Syndrome	24
1013	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	24
1014	c	RSM003	Rasmussen Subacute Encephalitis	23
1015	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	22
1016	c	HYP442	Hyperphosphatasia with Mental Retardation Syndrome 2	22
1017	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	22
1018		CHR655	Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive	22
1019		NRD023	Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language	21
1020		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	21
1021	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
1022		ATN001	Autonomic Peripheral Neuropathy	21
1023		ENC059	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity	21
1024	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	20
1025	c	GLM025	Glioma Susceptibility 2	20
1026	c	GLM047	Glioma Susceptibility 3	20
1027	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	20
1028	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	20
1029		BCK018	Bickerstaff Brainstem Encephalitis	19
1030	c	MNT294	Mental Retardation, X-Linked 106	19
1031	c	MNT218	Mental Retardation, X-Linked 99	19
1032	P	ALP076	Alopecia-Mental Retardation Syndrome 1	19
1033	c	MNT224	Mental Retardation, X-Linked 101	19
1034	c	MNT223	Mental Retardation, X-Linked 100	18
1035		NRD049	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures	17
1036	c	GLM043	Glioma Susceptibility 9	17
1037	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	16
1038		PCH018	Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts	16
1039		SPN004	Spinal Cord Lipoma	14
1040		NRD061	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities	14
1041	c	OLV005	Olivopontocerebellar Atrophy V	13
1042	c	ACQ029	Acquired Porencephaly	13
1043	c	OLV006	Olivopontocerebellar Atrophy Ii, Autosomal Recessive	12
1044	c	SPS214	Spastic Ataxia 4	11
1045	c	SPS171	Spastic Ataxia 5	11
1046	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	11
1047	c	SPS162	Spastic Ataxia 1	10
1048	c	SPS163	Spastic Ataxia 3	10
1049		CHL017	Childhood Brain Meningioma	9
1050	c	SPS170	Spastic Ataxia 2	9
1051	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	9
1052	c	GLM022	Glioma Susceptibility 8	9
1053	c	GLM019	Glioma Susceptibility 4	9
1054	c	GLM021	Glioma Susceptibility 6	9
1055	c	SPS172	Spastic Ataxia 7	8
1056	c	SPS229	Spastic Ataxia 8	8
1057	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	8
1058	c	GLM038	Glioma Susceptibility 7	8
1059	c	GLM020	Glioma Susceptibility 5	8
1060	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	7
1061		BRN023	Brain Stem Ependymoma	7
1062	c	ANG058	Angelman Syndrome Due to a Point Mutation	6
1063		MDS014	Mediastinum Neuroblastoma	6
1064		MTR033	Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita	3
1065		ACR006	Aceruloplasminemia	73
1066		ART005	Arteriovenous Malformation	66
1067	P	ENC018	Encephalopathy	65
1068	P	NRP001	Neuropathy	63
1069		TRN015	Transient Cerebral Ischemia	59
1070	P	RHB008	Rhabdoid Tumor Predisposition Syndrome 1	59
1071		LNN001	Lennox-Gastaut Syndrome	59
1072		GLM004	Gliomatosis Cerebri	58
1073		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	55
1074	c	LSS005	Lissencephaly 1	53
1075		GNG005	Gangliocytoma	52
1076	P	AST007	Astrocytoma	52
1077	P	SCH018	Schizencephaly	51
1078	P	SYR001	Syringomyelia	51
1079	P	BND018	Band Heterotopia	50
1080		CNT046	Central Nervous System Vasculitis	49
1081	c	PRM092	Primary Lateral Sclerosis, Adult, 1	48
1082		HMM003	Hemimegalencephaly	48
1083		ENC010	Encephalocraniocutaneous Lipomatosis	47
1084	c	MLG068	Malignant Glioma	47
1085		DFF037	Diffuse Intrinsic Pontine Glioma	47
1086		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	46
1087		ATN004	Autonomic Neuropathy	46
1088		BRN032	Brain Glioma	45
1089		LCK001	Locked-in Syndrome	45
1090		MDL002	Medulloepithelioma	45
1091		BRN080	Brain Ischemia	43
1092	P	HYP265	Hypotonia	43
1093	P	MCR241	Microphthalmia, Syndromic 3	42
1094		ARC002	Arachnoiditis	41
1095		PLM039	Pulmonary Neuroendocrine Tumor	41
1096		ARC007	Arachnoid Cysts	39
1097		EST003	Eastern Equine Encephalitis	39
1098		CNT041	Central Nervous System Melanocytic Neoplasm	39
1099	c	LKD009	Leukodystrophy, Hypomyelinating, 5	38
1100	c	PSD106	Pseudo-Torch Syndrome 1	37
1101		BRN031	Brain Germinoma	37
1102	P	ATN003	Autonomic Nervous System Neoplasm	37
1103		VST001	Vestibular Neuronitis	35
1104		MND023	Mend Syndrome	35
1105	P	SCH017	Schindler Disease	35
1106		TMP011	Temple-Baraitser Syndrome	34
1107		PLY117	Polymicrogyria, Bilateral Frontoparietal	34
1108		GLS004	Glossopharyngeal Neuralgia	34
1109		TRG003	Trigeminal Nerve Disease	34
1110	c	CHR670	Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	34
1111		CHR543	Chromosome 2q37 Deletion Syndrome	34
1112	c	SPN096	Spinocerebellar Ataxia 21	33
1113		BRN021	Brain Sarcoma	33
1114	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	33
1115	P	HYP700	Hypomyelinating Leukodystrophy	32
1116		PLY158	Polyglucosan Body Neuropathy, Adult Form	31
1117		ADL060	Adult Polyglucosan Body Disease	30
1118	c	MNT145	Mental Retardation, Autosomal Recessive 5	30
1119		CRB070	Cerebral Folate Deficiency	29
1120		CNT109	Central Nervous System Benign Neoplasm	29
1121		ZTT001	Zttk Syndrome	29
1122	c	MNT328	Mental Retardation, Autosomal Dominant 52	28
1123	c	MNT280	Mental Retardation, Autosomal Dominant 43	28
1124	c	MNT213	Mental Retardation, Autosomal Recessive 40	27
1125	c	MNT242	Mental Retardation, Autosomal Dominant 40	27
1126	c	MNT166	Mental Retardation, Autosomal Recessive 39	27
1127		BRS005	Breast Neuroendocrine Neoplasm	27
1128	c	MNT244	Mental Retardation, Autosomal Recessive 49	27
1129	c	MNT176	Mental Retardation, Autosomal Recessive 38	26
1130	c	MNT216	Mental Retardation, Autosomal Recessive 41	26
1131		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
1132		BRN008	Brain Compression	25
1133		BRC097	Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation	25
1134	c	MNT177	Mental Retardation, Autosomal Recessive 27	25
1135	c	MNT332	Mental Retardation, Autosomal Dominant 56	25
1136		OHD003	Ohdo Syndrome, X-Linked	25
1137	c	MNT227	Mental Retardation, Autosomal Recessive 46	25
1138	c	MNT221	Mental Retardation, Autosomal Recessive 44	24
1139		ALC002	Alcohol-Related Neurodevelopmental Disorder	24
1140	c	MNT327	Mental Retardation, Autosomal Dominant 51	24
1141	c	MNT323	Mental Retardation, Autosomal Dominant 48	24
1142	c	MNT329	Mental Retardation, Autosomal Dominant 53	24
1143		NRD029	Neurodevelopmental Disorder with Involuntary Movements	23
1144	c	MNT330	Mental Retardation, Autosomal Dominant 54	23
1145	c	MNT286	Mental Retardation, Autosomal Dominant 45	23
1146	c	MNT326	Mental Retardation, Autosomal Dominant 50	23
1147	c	MNT234	Mental Retardation, Autosomal Recessive 48	23
1148	c	MNT215	Mental Retardation, Autosomal Recessive 43	22
1149	P	ENC046	Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy	22
1150		HYD065	Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies	22
1151	c	MNT220	Mental Retardation, Autosomal Recessive 45	22
1152	c	MNT225	Mental Retardation, Autosomal Recessive 47	22
1153	c	MNT279	Mental Retardation, Autosomal Dominant 47	22
1154	c	JVN001	Juvenile Astrocytoma	22
1155	P	TRC034	Torch Syndrome	22
1156		AMM001	Amme Complex	22
1157	c	MNT278	Mental Retardation, Autosomal Dominant 46	21
1158	c	SCN048	Secondary Syringomyelia	21
1159		IRV001	Irvan Syndrome	21
1160	c	MNT264	Mental Retardation, Autosomal Recessive 52	21
1161	c	PNT052	Pontocerebellar Hypoplasia, Type 12	21
1162	c	MNT243	Mental Retardation, Autosomal Recessive 50	20
1163	P	HYP830	Hypomagnesemia, Seizures, and Mental Retardation 1	20
1164		NRD058	Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures	20
1165		LWS001	Lewis-Sumner Syndrome	20
1166	c	CHR142	Charcot-Marie-Tooth Disease Type 2f	19
1167	c	ACQ050	Acquired Schizencephaly	18
1168		LSN001	Lesion of Sciatic Nerve	18
1169		ART137	Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect	18
1170		GZP006	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development	18
1171		NRD038	Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	18
1172		BRN007	Brain Oligodendroglioma	17
1173	c	ENC066	Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2	17
1174		CRT087	Cortical Dysplasia, Complex, with Other Brain Malformations 9	16
1175		NRD060	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia	16
1176	c	MNT195	Mental Retardation, X-Linked 96	16
1177		SCH001	Schwannoma of Twelfth Cranial Nerve	15
1178		LSS040	Lissencephaly 9 with Complex Brainstem Malformation	15
1179		MNT107	Mental Retardation, Fra12a Type	15
1180		FLP002	Floppy Infant Syndrome	14
1181	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	12
1182		NRP057	Neuropathy, Hereditary Sensory, Atypical	11
1183		INT090	Intellectual Deficit Buenos-Aires Type	11
1184	c	PRM168	Primary Syringomyelia	11
1185		NRP058	Neuropathy, Hereditary Sensory, X-Linked	11
1186	c	FML255	Familial Syringomyelia	10
1187		TLF001	Telfer Sugar Jaeger Syndrome	9
1188		CHL051	Childhood Brain Germinoma	9
1189		PPV001	Popov-Chang Syndrome	8
1190		CNT013	Central Nervous System Leiomyoma	8
1191		BRN020	Brain Stem Angioblastoma	8
1192	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	7
1193		SCR027	Sacral Nerve Root Cysts	7
1194		CLP007	Clpb Deficiency	7
1195		ALD006	Aldred Syndrome	6
1196		HRD105	Hereditary Sensorimotor Neuropathy with Hyperelastic Skin	5
1197	c	FML049	Familial Band Heterotopia	4
1198		NRL011	Neurological Consequences of Cytomegalovirus Infection	3
1199		ANX010	Anxiety	73
1200	c	TBR025	Tuberous Sclerosis 1	71
1201	P	TBR001	Tuberous Sclerosis	69
1202	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	68
1203	c	TBR026	Tuberous Sclerosis 2	66
1204	c	MCP050	Mucopolysaccharidosis, Type Ii	66
1205	P	CNG001	Congenital Myasthenic Syndrome	66
1206	P	ENC004	Encephalitis	66
1207		NRL005	Neurilemmoma	65
1208		PRT058	Pure Autonomic Failure	65
1209		MNK001	Menkes Disease	64
1210	c	MCP049	Mucopolysaccharidosis, Type Vii	64
1211	c	MCP052	Mucopolysaccharidosis, Type Vi	61
1212	P	SZR006	Seizure Disorder	61
1213	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
1214		TRD006	Tardive Dyskinesia	60
1215	c	MCP004	Mucopolysaccharidosis Iv	59
1216		RRR001	Rere-Related Disorders	59
1217	P	SYP003	Syphilis	58
1218		LMB002	Lambert-Eaton Myasthenic Syndrome	58
1219		GLY010	Glycine Encephalopathy	57
1220		HMN009	Hemangioblastoma	55
1221	P	GLM045	Glioma	55
1222	P	TRM003	Tremor	55
1223	P	MCR010	Microcephaly	55
1224		MLL018	Miller-Dieker Lissencephaly Syndrome	54
1225		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	53
1226		MYL020	Myelomeningocele	53
1227	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	53
1228		NRM004	Neuroma	52
1229	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
1230	c	CHR283	Chronic Inflammatory Demyelinating Polyneuropathy	52
1231		HYD061	Hydrocephalus, Normal-Pressure	51
1232	c	ACR116	Aicardi-Goutieres Syndrome 1	50
1233		SPN021	Spinal Meningioma	50
1234	c	RBN021	Rubinstein-Taybi Syndrome 1	50
1235	P	KRN004	Kernicterus	48
1236		NNT033	Neonatal Hypoxic and Ischemic Brain Injury	48
1237	P	ENC008	Encephalocele	48
1238		CRB090	Cerebral Hypoxia	47
1239		HYP134	Hypoparathyroidism-Retardation-Dysmorphism Syndrome	46
1240		DBT002	Diabetic Autonomic Neuropathy	46
1241	c	PRM022	Primary Syphilis	45
1242	c	GM1005	Gm1-Gangliosidosis, Type Ii	45
1243	c	LKD019	Leukodystrophy, Hypomyelinating, 6	45
1244		MNN017	Mononeuropathy	44
1245	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	44
1246	P	HMF004	Hemifacial Spasm	43
1247	c	SPN265	Spinocerebellar Ataxia 36	42
1248		CLF037	Cleft Lip/palate-Ectodermal Dysplasia Syndrome	42
1249		STL001	St. Louis Encephalitis	42
1250		CRB148	Cerebral Creatine Deficiency Syndrome 3	41
1251	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	41
1252	c	CNG031	Congenital Nervous System Abnormality	40
1253	c	CNG033	Congenital Syphilis	40
1254		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	40
1255	c	SCN006	Secondary Syphilis	39
1256		OHD004	Ohdo Syndrome	39
1257	c	MCP051	Mucopolysaccharidosis, Type Ix	38
1258	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	38
1259		HYP264	Hypertonia	37
1260	c	ACR088	Aicardi-Goutieres Syndrome 3	37
1261	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	37
1262	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
1263		EPD005	Epidural Abscess	35
1264		SPN018	Spinal Cord Astrocytoma	35
1265		NRX001	Neuroaxonal Dystrophy	35
1266		FMR004	Fumarase Deficiency	35
1267	c	SCH069	Schindler Disease, Type I	34
1268		TRL002	Tarlov Cysts	34
1269		PRM205	Primary Hepatic Neuroendocrine Carcinoma	34
1270		PRN016	Peroneal Neuropathy	33
1271		INF129	Infantile Cerebellar-Retinal Degeneration	33
1272		FST001	Foster-Kennedy Syndrome	33
1273	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	33
1274	c	CHR682	Chronic Bilirubin Encephalopathy	33
1275		NRG001	Neurogenic Bowel	33
1276	c	LSS010	Lissencephaly 4	32
1277		EPT008	Epithelioid Malignant Peripheral Nerve Sheath Tumor	31
1278	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	31
1279		ISC001	Ischemic Neuropathy	31
1280		CKS001	Ck Syndrome	31
1281	c	ACR081	Aicardi-Goutieres Syndrome 6	31
1282		FCL011	Facial Nerve Disease	30
1283	c	MYS067	Myasthenic Syndrome, Congenital, 22	30
1284	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
1285		LKN024	Leukoencephalopathy, Brain Calcifications, and Cysts	30
1286		EMB015	Embryonal Tumor with Multilayered Rosettes	29
1287	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
1288	c	SNS009	Sensory Neuropathy Type 1	29
1289	P	ACT241	Acute Bilirubin Encephalopathy	29
1290	c	TRM024	Tremor, Hereditary Essential, 1	28
1291		NRS001	Neuroschistosomiasis	28
1292	c	LTC001	Late Congenital Syphilis	27
1293	c	MLT009	Multiple Cranial Nerve Palsy	27
1294		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	26
1295	c	BSL030	Basal Encephalocele	26
1296	c	MYS056	Myasthenic Syndrome, Congenital, 17	25
1297	c	FRN037	Frontal Encephalocele	25
1298		ALP089	Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality	25
1299		HYD054	Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation	24
1300		TBL007	Tibial Neuropathy	24
1301		EPL149	Epilepsy, Hearing Loss, and Mental Retardation Syndrome	24
1302	c	MNT339	Mental Retardation, Autosomal Recessive 66	24
1303	c	HMF011	Hemifacial Spasm, Familial	24
1304	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	23
1305		ILL008	Ileal Neuroendocrine Tumor	22
1306		CRB198	Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome	22
1307	c	ERL002	Early Congenital Syphilis	22
1308		RDL014	Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation	21
1309		MLP006	Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type	21
1310		INT022	Intracranial Primitive Neuroectodermal Tumor	21
1311		ESP009	Esophageal Neuroendocrine Tumor	21
1312		MYC075	Myoclonus, Intractable, Neonatal	21
1313		HLL013	Hall-Riggs Mental Retardation Syndrome	20
1314		BLP010	Blepharophimosis Intellectual Disability Syndromes	20
1315	c	CHR115	Charcot-Marie-Tooth Neuropathy Type 2a	20
1316		PLY113	Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag	20
1317	c	TRM020	Tremor, Hereditary Essential, 2	20
1318	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	19
1319	P	BRN140	Brain Small Vessel Disease 2	19
1320		BLP044	Blepharophimosis with Facial and Genital Anomalies and Mental Retardation	19
1321	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	19
1322		SPN424	Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits	19
1323		OVR004	Ovary Neuroendocrine Neoplasm	19
1324		PRP102	Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development	19
1325		GMS002	Gms Syndrome	18
1326	c	TRM022	Tremor, Hereditary Essential, 5	18
1327		PRS131	Prostate Cancer/brain Cancer Susceptibility	18
1328	c	TRM017	Tremor, Hereditary Essential, 4	18
1329		YLK002	Yolk Sac Tumor of Central Nervous System	18
1330		ULN002	Ulnar Nerve Lesion	17
1331	P	NNP004	Nonphotosensitive Trichothiodystrophy	17
1332		LMB066	Limb Defects, Distal Transverse, with Mental Retardation and Spasticity	17
1333		PBL004	Piebald Trait with Neurologic Defects	17
1334		NRN045	Neuroendocrine Neoplasm of Appendix	16
1335		MNN005	Meningovascular Neurosyphilis	16
1336		WLF012	Wolff Mental Retardation Syndrome	16
1337		ERL033	Early-Onset Parkinsonism-Intellectual Disability Syndrome	16
1338		BRN027	Brain Angioma	16
1339		SPN025	Spinal Cord Melanoma	16
1340		PTR031	Pterygium Colli and Mental Retardation with Facial and Digital Anomalies	16
1341		ULN022	Ulnar Hypoplasia with Mental Retardation	15
1342		NRP047	Neuropathy, Hereditary Thermosensitive	15
1343		CNG457	Congenital Oculomotor Nerve Palsy	15
1344	P	MNT312	Mental Health Wellness 1	15
1345		VSC048	Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	15
1346		NRP006	Neuropathy, Congenital, with Arthrogryposis Multiplex	15
1347		RDL026	Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	15
1348		SPN347	Spondyloepiphyseal Dysplasia Tarda with Mental Retardation	14
1349		KFF001	Kifafa Seizure Disorder	14
1350		NRC007	Neuroectodermal Endocrine Syndrome	14
1351		SCH022	Schimke X-Linked Mental Retardation Syndrome	14
1352		EFV001	Efavirenz, Poor Metabolism of	14
1353		HYP687	Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy	14
1354	c	CHR120	Charcot-Marie-Tooth Neuropathy X Type 1	14
1355		OCL024	Ocular Neuromyotonia	14
1356		SPS218	Spastic Diplegia and Mental Retardation	14
1357	c	SBC037	Subacute Inflammatory Demyelinating Polyneuropathy	13
1358	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	13
1359		SPR039	Supratentorial Primitive Neuroectodermal Tumors, Childhood	13
1360		PRS017	Prostate Neuroendocrine Neoplasm	12
1361		CNG362	Congenital Trochlear Nerve Palsy	12
1362		SPN024	Spinal Cord Sarcoma	12
1363	c	SZR011	Seizures, Benign Familial Infantile, 4	12
1364		HRD103	Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum	12
1365		NRH002	Neurohypophysis Granular Cell Tumor	12
1366		INT288	Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	11
1367	c	TRM016	Tremor, Hereditary Essential, 3	11
1368		CLN014	Colon Neuroendocrine Neoplasm	11
1369	c	NRB012	Neuroblastoma 5	11
1370		MNT311	Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration	11
1371	P	FTL014	Fetal Brain Disruption Sequence	11
1372		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	11
1373	P	NRP005	Neuropathy Sensory Spastic Paraplegia	10
1374		SPN002	Spinal Cord Intramedullary Teratoma	10
1375		CRB010	Cerebellopontine Angle Primitive Neuroectodermal	10
1376		ULN019	Ulna Hypoplasia-Intellectual Disability Syndrome	10
1377		NRF005	Neurofibroma of Gallbladder	10
1378		ICH027	Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin	10
1379	c	NRB013	Neuroblastoma 6	10
1380		KCN019	Kcnk9 Imprinting Syndrome	10
1381	c	NRB016	Neuroblastoma 7	10
1382	c	NRB011	Neuroblastoma 4	10
1383		CNT023	Central Nervous System Hemangioma	9
1384	c	ATS389	Autosomal Dominant Non-Syndromic Intellectual Disability 8	9
1385	c	DNM001	Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy	9
1386		PRP096	Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain	9
1387	P	RBN007	Rubinstein Taybi Like Syndrome	9
1388		ATM073	Autoimmune-Related Retinopathy and Optic Neuropathy	9
1389		SYN093	Syndromic X-Linked Intellectual Disability Raymond Type	9
1390		SFT001	Soft Tissue Peripheral Neuroepithelioma	9
1391		TRN026	Tranebjaerg Svejgaard Syndrome	8
1392		CLL024	Colloid Cysts of Third Ventricle	8
1393	c	SCN009	Scn1a-Related Seizure Disorders	8
1394		MLG125	Malignant Mediastinal Neurogenic Neoplasm	8
1395		NRF001	Neurofibroma of Spinal Cord	8
1396		SNL005	Senile Degeneration of Brain	7
1397		MLG057	Malignant Cardiac Peripheral Nerve Sheath Neoplasm	7
1398	c	ADL036	Adult Central Nervous System Germinoma	7
1399	c	KRN003	Kernicterus Due to Isoimmunization	7
1400	c	GDP003	Gdap1-Related Hereditary Motor and Sensory Neuropathy	7
1401	c	SVR017	Severe Infantile Axonal Neuropathy	7
1402	c	INF044	Infantile Axonal Neuropathy	7
1403		NRF006	Neurofibroma of the Heart	7
1404	c	MNT313	Mental Health Wellness 2	7
1405		HRD181	Hereditary Neuroendocrine Tumor of Small Intestine	7
1406	P	ADL055	Adult Central Nervous System Teratoma	7
1407		NRN043	Neuroendocrine Neoplasm of Esophagus	7
1408		NRV001	Nerve Root Neoplasm	6
1409		INF155	Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	6
1410		ADL004	Adult Brainstem Astrocytoma	6
1411		CRV019	Cervical Spinal Canal and Spinal Cord Meningioma	6
1412		CTS013	Cutis Verticis Gyrata Mental Deficiency	6
1413		MLG015	Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum	6
1414		SCR007	Sacral Spinal Canal and Spinal Cord Meningioma	6
1415	c	MLT014	Multiple Spinal Canal and Spinal Cord Meningioma	6
1416		THR008	Thoracic Spinal Canal and Spinal Cord Meningioma	6
1417		CHL053	Childhood Brainstem Astrocytoma	6
1418		PLN002	Plantar Nerve Lesion	6
1419		LMB007	Lumbar Spinal Canal and Spinal Cord Meningioma	6
1420		GRN054	Grin1-Associated Disorders	6
1421		NSL005	Nasal Cavity Olfactory Neuroblastoma	6
1422		INT252	Intestinal Neuroendocrine Benign Tumor	6
1423		AKS001	Akesson Syndrome	6
1424		MDS007	Mediastinum Neurofibroma	5
1425		SCM002	Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities	5
1426		PTR009	Pterygium Colli Mental Retardation Digital Anomalies	5
1427		PRG135	Progressive Dementia with Neuroserpin Inclusion Bodies	4
1428		PRG136	Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies	4
1429		HYP234	Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response	4
1430		DFN009	Deafness Hyperuricemia Neurologic Ataxia	4
1431		NRV003	Nervous System Hibernoma	4
1432		CRN091	Craniosynostosis Alopecia Brain Defect	3
1433		PRT057	Proteus Like Syndrome Mental Retardation Eye Defect	3
1434		CNG099	Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation	3
1435		OST060	Osteosclerosis Abnormalities of Nervous System and Meninges	3
1436		CRN100	Craniosynostosis Mental Retardation Heart Defects	3
1437		CRN064	Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation	2
1438		SZR004	Seizures Mental Retardation Hair Dysplasia	2
1439		DFN033	Deafness, Neurosensory Nonsyndromic Recessive, Dfn	2
1440		DFN018	Deafness Peripheral Neuropathy Arterial Disease	2
1441		DFN012	Deafness Mesenteric Diverticula of Small Bowel Neuropathy	2
1442		EPL007	Epilepsy Mental Deterioration Finnish Type	2
1443		RTN074	Retinopathy Aplastic Anemia Neurological Abnormalities	2
1444		SPN084	Spinal Bulbar Motor Neuropathy	2
1445		FCL024	Focal or Multifocal Malformations in Neuronal Migration	2
1446		SPS043	Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation	2
1447		HRD059	Hereditary Peripheral Nervous Disorder	2
1448		CHR279	Chronic Demyelinizing Neuropathy with Igm Monoclonal	2
1449	P	ATX030	Ataxia-Telangiectasia	82
1450	P	PRK057	Parkinson Disease, Late-Onset	76
1451		MVM001	Movement Disease	67
1452	P	ATT013	Attention Deficit-Hyperactivity Disorder	66
1453	P	CRB048	Cerebral Cavernous Malformations	63
1454		PST028	Post-Traumatic Stress Disorder	63
1455	c	MNN047	Mannosidosis, Alpha B, Lysosomal	63
1456		HMR039	Hemorrhage, Intracerebral	62
1457		MYC079	Myoclonic Epilepsy of Lafora	61
1458		SLP005	Sleep Disorder	60
1459		APH002	Aphasia	59
1460	P	SPN301	Spinocerebellar Ataxia 2	59
1461	P	NRC002	Narcolepsy	59
1462		CRT033	Corticobasal Degeneration	58
1463	P	PLC011	Pilocytic Astrocytoma	56
1464	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	56
1465	c	CHR320	Chiari Malformation Type I	55
1466		MTC027	Mitochondrial Trifunctional Protein Deficiency	55
1467		RDC002	Radiculopathy	55
1468	c	CRB191	Cerebral Cavernous Malformations 2	54
1469		APR001	Apraxia	53
1470		CRB027	Cerebellar Disease	53
1471	c	SPN291	Spinocerebellar Ataxia 7	53
1472		LPD009	Lipid Storage Disease	52
1473		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	52
1474		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	52
1475		TMT001	Timothy Syndrome	52
1476		OPS006	Opsoclonus-Myoclonus Syndrome	52
1477	P	MNN019	Mannosidosis, Beta a, Lysosomal	52
1478	c	SPN314	Spinocerebellar Ataxia 10	51
1479		HRP009	Herpes Simplex Encephalitis	50
1480	P	MGL013	Megalencephaly	50
1481	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	50
1482		OCL069	Ocular Motor Apraxia	49
1483		CHR222	Chromosome 1p36 Deletion Syndrome	49
1484		CRB045	Cerebellar Hypoplasia	49
1485		WRN003	Wernicke Encephalopathy	49
1486	c	NRC009	Narcolepsy 1	49
1487	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	48
1488		PST048	Postural Orthostatic Tachycardia Syndrome	48
1489	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	48
1490		PRP056	Porphyria, Acute Hepatic	47
1491	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	46
1492	c	JVN009	Juvenile Pilocytic Astrocytoma	46
1493	c	SPN097	Spinocerebellar Ataxia 23	45
1494	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
1495		CRP032	Corpus Callosum, Agenesis of	45
1496		NCL006	Nicolaides-Baraitser Syndrome	44
1497	P	SMP003	Simpson-Golabi-Behmel Syndrome	44
1498		LCR004	La Crosse Encephalitis	44
1499	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
1500	P	PNT019	Pontocerebellar Hypoplasia	43
1501	c	SPN305	Spinocerebellar Ataxia 11	42
1502		DND001	Dandy-Walker Syndrome	42
1503	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	41
1504	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
1505	c	ERL056	Early-Onset Parkinson's Disease	41
1506		MTH074	Methionine Adenosyltransferase I/iii Deficiency	39
1507	c	PRK025	Parkinson Disease 10	39
1508	c	PRK090	Parkinson Disease 3, Autosomal Dominant	38
1509	P	2HY001	2-Hydroxyglutaric Aciduria	38
1510	c	CRB094	Cerebral Cavernous Malformations 3	37
1511	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	37
1512	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	37
1513	c	BSL038	Basal Ganglia Calcification, Idiopathic, 1	36
1514	P	CNT036	Central Nervous System Germ Cell Tumor	36
1515	c	NRC010	Narcolepsy 2	36
1516		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	36
1517	c	ACR092	Aicardi-Goutieres Syndrome 5	36
1518		BRW004	Brown-Sequard Syndrome	36
1519		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	35
1520	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
1521	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
1522		LTR009	Lateral Meningocele Syndrome	35
1523	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	35
1524		GRS001	Gerstmann Syndrome	35
1525		ART110	Arteritic Anterior Ischemic Optic Neuropathy	35
1526		ASP024	Asparagine Synthetase Deficiency	34
1527	c	HRD173	Hereditary Late-Onset Parkinson Disease	33
1528	c	SPS039	Spastic Paraplegia 5a	33
1529	c	PRK093	Parkinson Disease 8, Autosomal Dominant	33
1530	c	ACR091	Aicardi-Goutieres Syndrome 4	33
1531	P	SCH077	Schwannomatosis 1	33
1532	c	ACR090	Aicardi-Goutieres Syndrome 2	32
1533		ACR025	Acrocephalopolydactylous Dysplasia	32
1534		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	32
1535		NRN002	Neuronitis	32
1536	c	HYP716	Hypermanganesemia with Dystonia 1	32
1537		PHC004	Phace Syndrome	31
1538	c	PRK071	Parkinson Disease 14, Autosomal Recessive	31
1539	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	31
1540	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
1541		TMT002	Temtamy Preaxial Brachydactyly Syndrome	30
1542		PRG007	Progressive Bulbar Palsy	30
1543		ALC011	Alcoholic Neuropathy	30
1544		BLB005	Beaulieu-Boycott-Innes Syndrome	29
1545		LGH003	Leigh Syndrome, French Canadian Type	29
1546		BRN034	Brain Meningioma	29
1547	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	29
1548	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	28
1549	c	INF041	Infantile-Onset Ascending Hereditary Spastic Paralysis	28
1550		PNT009	Pontine Tegmental Cap Dysplasia	28
1551	P	TTH021	Tethered Cord Syndrome	27
1552	P	HYP723	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1	27
1553		RDL004	Radial Neuropathy	27
1554		FZL002	Fazio-Londe Disease	26
1555		PPL060	Papillary Glioneuronal Tumors	26
1556	c	PRK091	Parkinson Disease 4, Autosomal Dominant	26
1557	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	26
1558		GLT011	Glutamine Deficiency, Congenital	26
1559	c	MNT334	Mental Retardation, Autosomal Dominant 57	25
1560	c	SPN420	Spinocerebellar Ataxia 46	25
1561	c	LKD030	Leukodystrophy, Hypomyelinating, 17	25
1562		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	24
1563		WTS001	Watson Syndrome	24
1564	c	LKD021	Leukodystrophy, Hypomyelinating, 11	24
1565	c	SPN427	Spinocerebellar Ataxia 48	24
1566	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	24
1567	c	PRK008	Parkinson Disease Type 9	23
1568	c	JVN058	Juvenile-Onset Parkinson's Disease	23
1569	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	22
1570		MNT269	Mental Retardation, X-Linked, Syndromic, Bain Type	22
1571		MLL006	Mollaret Meningitis	22
1572		HRL006	Harel-Yoon Syndrome	22
1573	c	MNT275	Mental Retardation, Autosomal Recessive 60	21
1574		OKR001	Okur-Chung Neurodevelopmental Syndrome	21
1575	c	MNT267	Mental Retardation, X-Linked 104	21
1576		ACT181	Acute Motor Axonal Neuropathy	21
1577		2Q3001	2q37 Deletion Syndrome	21
1578		FXL001	Foix-Alajouanine Syndrome	20
1579	P	HYP821	Hypermanganesemia with Dystonia	20
1580	c	SCH088	Schwannomatosis 2	19
1581	P	BSL046	Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	19
1582		FGS004	Fg Syndrome 4	19
1583	c	PRK098	Parkinson Disease 5, Autosomal Dominant	19
1584	c	PRK022	Parkinson Disease 12	19
1585	c	MNT289	Mental Retardation, X-Linked 103	19
1586	c	PRK058	Parkinson Disease 16	18
1587	c	NRC017	Narcolepsy 7	18
1588	c	LRR001	Lrrk2-Related Parkinson Disease	18
1589		NRD046	Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities	18
1590	c	SPN432	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3	18
1591		NRD044	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features	17
1592		NRD027	Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset	17
1593		CRV067	Cervical Neuroblastoma	17
1594		ATS309	Autosomal Dominant Leukodystrophy with Autonomic Disease	17
1595	c	MNT333	Mental Retardation, X-Linked 107	17
1596		OSL002	O'sullivan-Mcleod Syndrome	16
1597		ADN078	Adnp Syndrome	16
1598		CLP002	Colpocephaly	16
1599	c	NRC011	Narcolepsy 3	16
1600		INT311	Intellectual Developmental Disorder with Neuropsychiatric Features	16
1601		MNT306	Mental Retardation, X-Linked, Syndromic, Houge Type	16
1602	c	MNT274	Mental Retardation, X-Linked 105	16
1603	c	BSL031	Basal Ganglia Calcification, Idiopathic, 2	15
1604		MCR370	Macrocephaly, Acquired, with Impaired Intellectual Development	15
1605		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	15
1606		SBN004	Sabinas Brittle Hair Syndrome	15
1607		CHL046	Childhood Central Nervous System Mixed Germ Cell Tumor	15
1608	c	ATT020	Attention Deficit-Hyperactivity Disorder 2	14
1609		CHR554	Chromosome 17q11.2 Deletion Syndrome	13
1610	c	NRC012	Narcolepsy 4	12
1611	c	BRN141	Brain Small Vessel Disease 3	12
1612	c	MGL035	Megalencephaly, Autosomal Dominant	12
1613		KLM001	Klumpke Paralysis	12
1614		SQL002	Squalene Synthase Deficiency	12
1615	c	NRC013	Narcolepsy 5	12
1616	c	CSK002	Cask-Related Intellectual Disability	11
1617	c	NRC018	Narcolepsy 6	11
1618		PRS125	Pura Syndrome	11
1619	c	ATT021	Attention Deficit-Hyperactivity Disorder 3	10
1620	c	ATT022	Attention Deficit-Hyperactivity Disorder 4	10
1621	c	ATT019	Attention Deficit-Hyperactivity Disorder 1	10
1622	c	HVP001	Hivep2-Related Intellectual Disability	9
1623	c	ADL083	Adult-Onset Citrullinemia Type I	9
1624	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	8
1625	c	ATS360	Autosomal Recessive Intellectual Disability 58	7
1626	c	ATS410	Autosomal Dominant Intellectual Disability 49	7
1627	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	7
1628	c	ADL029	Adult Central Nervous System Mixed Germ Cell Tumor	7
1629	c	VPS003	Vps35-Related Parkinson Disease	6
1630		ATS241	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons	6
1631	c	ATS403	Autosomal Dominant Intellectual Disability 40	6
1632	c	SN3001	Sin3a-Related Intellectual Disability Syndrome	6
1633	c	ATS348	Autosomal Dominant Intellectual Disability 30	6
1634	c	TRR002	Trio-Related Intellectual Disability	5
1635	c	WCR002	Wac-Related Intellectual Disability	5
1636	c	WDR002	Wdr26-Related Intellectual Disability	5
1637	c	ARX002	Arx-Related Intellectual Disability	4
1638	c	ACS002	Acsl4-Related Intellectual Disability	4
1639	c	DDX001	Ddx3x-Related Intellectual Disability	4
1640		GLB002	Glioblastoma	74
1641	P	HYD006	Hydrocephalus	67
1642		CHD001	Chediak-Higashi Syndrome	67
1643	P	CRN037	Craniosynostosis	66
1644		ETN001	Eating Disorder	65
1645	P	CCK001	Cockayne Syndrome	65
1646	P	MYP004	Myopathy	64
1647		CLF027	Cleft Palate, Isolated	64
1648	c	MCP001	Mucopolysaccharidosis Iii	63
1649		CMP010	Complex Regional Pain Syndrome	63
1650		RBS001	Rabies	62
1651	P	EPN002	Ependymoma	62
1652	P	MTR004	Maturity-Onset Diabetes of the Young	61
1653	P	CRG003	Crigler-Najjar Syndrome, Type I	61
1654		GRD007	Grade Iii Astrocytoma	61
1655		NRM019	Neuraminidase Deficiency	60
1656	P	RST001	Restless Legs Syndrome	59
1657	P	CTR002	Cataract	59
1658	c	CNG216	Congenital Hydrocephalus	57
1659	P	PLY019	Polyneuropathy	57
1660		ASP003	Aseptic Meningitis	56
1661		SMT006	Somatoform Disorder	55
1662		CVR006	Cavernous Hemangioma	55
1663	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	54
1664	c	CRG004	Crigler-Najjar Syndrome, Type Ii	54
1665	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	54
1666	c	BNG030	Benign Ependymoma	53
1667	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	53
1668		LRN003	Learning Disability	53
1669	c	MYP132	Myopathy, Congenital	52
1670		HDN002	Head Injury	52
1671	P	SLL003	Salla Disease	52
1672		PTS001	Patau Syndrome	52
1673	P	ALT001	Alternating Hemiplegia of Childhood	51
1674	c	CCK008	Cockayne Syndrome a	51
1675		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	49
1676	c	PNC128	Pain - Chronic	49
1677	P	ERL057	Early Infantile Epileptic Encephalopathy	49
1678	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	49
1679	c	SPN296	Spinocerebellar Ataxia 17	48
1680	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	48
1681		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	47
1682	P	MYC033	Myoclonus	47
1683	c	LKD015	Leukodystrophy, Hypomyelinating, 3	47
1684		GLD006	Goldberg-Shprintzen Syndrome	47
1685		LRN001	Laurence-Moon Syndrome	46
1686		ADP001	Adiposis Dolorosa	46
1687		MYC080	Myoclonic Epilepsy of Unverricht and Lundborg	46
1688	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	45
1689		IND012	Indifference to Pain, Congenital, Autosomal Recessive	45
1690		DPM001	Dopamine Beta-Hydroxylase Deficiency	45
1691	P	DYS021	Dysautonomia	45
1692		PRS063	Paresthesia	45
1693	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	45
1694	c	MLG064	Malignant Ependymoma	45
1695		MLK003	Melkersson-Rosenthal Syndrome	44
1696	c	MCP047	Mucopolysaccharidosis, Type Iva	44
1697	c	CRN278	Craniosynostosis 1	44
1698	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1699		PLY024	Polymicrogyria	43
1700	c	JBR024	Joubert Syndrome 14	43
1701	c	SPN290	Spinocerebellar Ataxia 15	43
1702		LRG014	Large Cell Neuroendocrine Carcinoma	43
1703	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	42
1704	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	42
1705	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	42
1706		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	42
1707	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	42
1708	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	41
1709	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	41
1710	c	SPN283	Spinocerebellar Ataxia 37	41
1711	c	CTR130	Cataract 9, Multiple Types	41
1712	c	SPN304	Spinocerebellar Ataxia 8	41
1713	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	41
1714	c	CTR098	Cataract 1, Multiple Types	41
1715		MRT007	Martsolf Syndrome	41
1716	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	41
1717		MCR222	Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations	40
1718		ADN022	Adenylosuccinase Deficiency	40
1719		PYR037	Pyruvate Carboxylase Deficiency	40
1720		DPR002	Depersonalization Disorder	40
1721	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	40
1722	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	40
1723	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	39
1724	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	39
1725		WST004	West Nile Encephalitis	39
1726		GLT019	Glut1 Deficiency Syndrome 2	39
1727	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	39
1728	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	39
1729	P	CRB088	Cerebral Atrophy	39
1730	c	ATM007	Autoimmune Disease of Central Nervous System	38
1731	P	STR001	Striatonigral Degeneration	38
1732		MTC023	Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes	38
1733		DND005	Dandy-Walker Complex	37
1734	c	CTR103	Cataract 4, Multiple Types	37
1735		CRB196	Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome	37
1736		SWL001	Swallowing Disorders	36
1737	c	PTT029	Pitt-Hopkins-Like Syndrome 1	36
1738	c	CTR118	Cataract 14, Multiple Types	36
1739		FTD001	Foot Drop	36
1740	c	CTR170	Cataract 30, Multiple Types	36
1741		LND001	Landau-Kleffner Syndrome	36
1742	c	CTR115	Cataract 16, Multiple Types	35
1743	c	CTR141	Cataract 21, Multiple Types	35
1744	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	35
1745	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	35
1746		MRK002	Marek Disease	35
1747		INT003	Intracranial Hypotension	35
1748	c	CTR122	Cataract 5, Multiple Types	35
1749	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
1750	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	35
1751	P	HYP111	Hyperprolinemia	35
1752	c	JBR025	Joubert Syndrome 17	35
1753	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	34
1754	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	34
1755		MST006	Mast Syndrome	34
1756	c	MYS075	Myasthenic Syndrome, Congenital, 13	34
1757	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	33
1758	c	CTR125	Cataract 7	33
1759	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	33
1760	c	ORT011	Orthostatic Hypotension 1	33
1761		PST036	Posterior Column Ataxia with Retinitis Pigmentosa	33
1762	P	NRN029	Neuronal Intestinal Dysplasia	33
1763	c	CTR145	Cataract 44	33
1764	c	ORT012	Orthostatic Hypotension 2	33
1765	c	CTR102	Cataract 2, Multiple Types	33
1766	c	CTR096	Cataract 6, Multiple Types	33
1767	c	JBR012	Joubert Syndrome 5	32
1768	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	32
1769	c	CTR132	Cataract 3, Multiple Types	32
1770	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	32
1771	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	32
1772	c	JBR022	Joubert Syndrome 20	32
1773	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	32
1774	c	CCK002	Cockayne Syndrome Type I	31
1775	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	31
1776	c	SPN284	Spinocerebellar Ataxia 38	31
1777	c	CTR158	Cataract 37	31
1778	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	31
1779	c	CRN277	Craniosynostosis 2	31
1780	c	CTR129	Cataract 31, Multiple Types	30
1781	c	CTR095	Cataract 8, Multiple Types	30
1782	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
1783	c	ATS270	Autosomal Dominant Café Au Lait Spots	30
1784	c	CTR174	Cataract 40	30
1785	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
1786	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	30
1787	c	JBR014	Joubert Syndrome 9	29
1788	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	29
1789	c	HYP248	Hyperprolinemia, Type I	29
1790	c	CRN281	Craniosynostosis 7	29
1791	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	29
1792		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	28
1793	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	28
1794	c	SPS025	Spastic Paraplegia 15	28
1795		CNT017	Central Nervous System Origin Vertigo	28
1796	P	STR092	Striatal Degeneration, Autosomal Dominant 2	28
1797	c	CTR113	Cataract 11, Multiple Types	28
1798	c	CTR175	Cataract 24	27
1799	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	27
1800		STB002	Satb2-Associated Syndrome	27
1801	c	JBR016	Joubert Syndrome 10	27
1802		BYL001	Baylisascariasis	27
1803		GNC005	Geniculate Ganglionitis	27
1804	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	27
1805	c	RST012	Restless Legs Syndrome 1	27
1806	c	CRN217	Craniosynostosis 3	26
1807	c	MNT287	Mental Retardation, Autosomal Recessive 57	26
1808		MNN002	Mononeuritis Multiplex	26
1809	P	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	26
1810	c	JBR013	Joubert Syndrome 8	26
1811	c	JBR018	Joubert Syndrome 4	26
1812		RCH010	Richieri-Costa/guion-Almeida Syndrome	26
1813	P	ENC054	Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations	26
1814		CNT042	Central Nervous System Mesenchymal Non-Meningothelial Tumor	26
1815	c	JBR011	Joubert Syndrome 7	26
1816	c	CHR094	Chronic Polyneuropathy	26
1817		CMB002	Combat Disorder	26
1818	c	CCK004	Cockayne Syndrome Type Iii	25
1819	P	PRM227	Primary Orthostatic Hypotension	25
1820	c	MNT282	Mental Retardation, Autosomal Recessive 55	25
1821	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
1822		MNS002	Mini Stroke	25
1823	c	LKD016	Leukodystrophy, Hypomyelinating, 9	25
1824	c	MYS074	Myasthenic Syndrome, Congenital, 12	25
1825		MCR064	Microcephaly, Seizures, and Developmental Delay	25
1826	c	JBR042	Joubert Syndrome 23	25
1827	c	ATM105	Autoimmune Disease of Peripheral Nervous System	25
1828	c	CTR169	Cataract 29	25
1829	c	CTR166	Cataract 33, Multiple Types	25
1830	c	CTR116	Cataract 15, Multiple Types	25
1831	c	JBR030	Joubert Syndrome 22	25
1832	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	25
1833	c	JBR037	Joubert Syndrome 26	25
1834		ART103	Arthrogryposis, Mental Retardation, and Seizures	25
1835	c	MNT337	Mental Retardation, Autosomal Dominant 58	24
1836	c	ATN017	Autonomic Nervous System Benign Neoplasm	24
1837	c	CTR131	Cataract 17, Multiple Types	24
1838	c	CTR181	Cataract 18	24
1839		ACL002	Acalvaria	24
1840	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	24
1841		SFR001	Sifrim-Hitz-Weiss Syndrome	24
1842	c	MNT285	Mental Retardation, Autosomal Recessive 58	24
1843	c	CTR162	Cataract 47	24
1844	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	23
1845		CLF050	Cleft Palate, Cardiac Defects, and Mental Retardation	23
1846		RTR023	Retroperitoneal Neuroblastoma	23
1847	c	CTR124	Cataract 10, Multiple Types	23
1848	c	CRN221	Craniosynostosis 4	23
1849		LKN017	Leukoencephalopathy with Ataxia	23
1850		JWD001	Jawad Syndrome	23
1851	c	JBR039	Joubert Syndrome 28	23
1852		ATM074	Autoimmune Autonomic Ganglionopathy	23
1853		MD2001	Med23	23
1854	c	MNT338	Mental Retardation, Autosomal Recessive 65	23
1855	c	CTR180	Cataract 22, Multiple Types	23
1856		BRN134	Brain Malformations with or Without Urinary Tract Defects	23
1857	c	CTR165	Cataract 19, Multiple Types	23
1858	c	CTR119	Cataract 32, Multiple Types	23
1859	c	LSS035	Lissencephaly 8	23
1860		IMM146	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	23
1861	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	23
1862	c	CTR105	Cataract 12, Multiple Types	23
1863	c	JBR021	Joubert Syndrome 18	23
1864	c	BSL035	Basal Ganglia Calcification, Idiopathic, 5	23
1865	c	STR101	Striatal Degeneration, Autosomal Dominant 1	22
1866		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	22
1867	c	SPS037	Spastic Paraplegia 31	22
1868	c	MNT336	Mental Retardation, Autosomal Recessive 64	22
1869	c	SPN364	Spinocerebellar Ataxia, X-Linked 3	22
1870		NRD036	Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures	22
1871	c	CTR184	Cataract 39, Multiple Types	22
1872	c	JBR047	Joubert Syndrome 35	22
1873	c	JBR040	Joubert Syndrome 30	22
1874	c	PRV018	Periventricular Nodular Heterotopia 7	22
1875		CRB089	Cerebral Beriberi	22
1876	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	22
1877		CLB021	Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation	22
1878		SPS209	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	22
1879	c	CRN256	Craniosynostosis 6	22
1880		AMY018	Amyotonia Congenita	22
1881	c	ATM089	Autoimmune Neuropathy	22
1882	c	ALT007	Alternating Hemiplegia of Childhood 2	22
1883		CRN104	Craniotelencephalic Dysplasia	22
1884	c	CHR683	Charcot-Marie-Tooth Disease, Axonal, Type 2ee	22
1885	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	22
1886	c	JBR028	Joubert Syndrome 13	22
1887	c	MNT263	Mental Retardation, Autosomal Recessive 51	21
1888	c	CTR097	Cataract 34, Multiple Types	21
1889	c	BSL039	Basal Ganglia Calcification, Idiopathic, 6	21
1890	c	CTR182	Cataract 23, Multiple Types	21
1891		MCR305	Microcephaly with Cervical Spine Fusion Anomalies	21
1892	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	21
1893	c	ALT008	Alternating Hemiplegia of Childhood 1	21
1894		MNT118	Mental Retardation, Anterior Maxillary Protrusion, and Strabismus	21
1895	c	JBR036	Joubert Syndrome 25	21
1896	c	MNT197	Mental Retardation, X-Linked, Syndromic 9	21
1897	c	MNT335	Mental Retardation, Autosomal Recessive 63	21
1898	c	CTR111	Cataract 36	21
1899	c	CTR136	Cataract 41	21
1900	c	JBR044	Joubert Syndrome 31	21
1901		NRD053	Neurodevelopmental Disorder with Spasticity and Poor Growth	20
1902	c	MNT277	Mental Retardation, Autosomal Recessive 54	20
1903		NRD054	Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures	20
1904	c	MNT281	Mental Retardation, Autosomal Recessive 59	20
1905	c	JBR038	Joubert Syndrome 27	20
1906	c	CTR183	Cataract 38	20
1907	c	MLG023	Malignant Adult Ependymoma	20
1908		CNT067	Central Cord Syndrome	20
1909		NRF010	Neurofaciodigitorenal Syndrome	20
1910	c	CTR159	Cataract 35	20
1911	c	CTR185	Cataract 30	20
1912	c	MNT284	Mental Retardation, Autosomal Recessive 56	20
1913	c	PRV021	Periventricular Nodular Heterotopia 8	20
1914		NRD045	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills	19
1915	c	GNR020	Gne-Related Myopathy	19
1916	c	CTR106	Cataract 20, Multiple Types	19
1917	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	19
1918		LKN018	Leukoencephalopathy, Progressive, with Ovarian Failure	19
1919	c	SPN363	Spinocerebellar Ataxia, X-Linked 4	19
1920	c	CTR163	Cataract 46, Juvenile-Onset	19
1921		NRD052	Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures	19
1922		CHD007	Chd2 Myoclonic Encephalopathy	19
1923	c	CTR121	Cataract 25	19
1924		SPN409	Spongiform Encephalopathy with Neuropsychiatric Features	19
1925	c	CTR110	Cataract 26, Multiple Types	19
1926	c	HYD042	Hydrocephalus, Autosomal Dominant	18
1927		XLN162	X-Linked Intellectual Disability, Najm Type	18
1928		NRD025	Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations	18
1929	c	CTR144	Cataract 43	18
1930	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	18
1931	c	CTR157	Cataract 28	18
1932	c	CTR139	Cataract 42	18
1933		BBB001	Bobble-Head Doll Syndrome	18
1934	c	CTR160	Cataract 45	18
1935		CRB158	Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome	18
1936	c	INT336	Intellectual Developmental Disorder, Autosomal Recessive 68	18
1937		NRD043	Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities	17
1938	c	CTR178	Cataract 27	17
1939		ABS003	Absence of Septum Pellucidum	17
1940	c	CTR025	Cataract, Total Congenital	17
1941		MGC007	Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations	17
1942		MNT331	Mental Retardation, Autosomal Dominant 55, with Seizures	16
1943		HYD066	Hydrocephalus, Congenital, 3, with Brain Anomalies	16
1944		NRD056	Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities	16
1945		KRS005	Korsakoff's Amnesic Syndrome	16
1946	c	HYP834	Hypomagnesemia, Seizures, and Mental Retardation 2	16
1947	c	CTR187	Cataract 48	16
1948	c	CRB140	Cerebral Palsy, Spastic Quadriplegic, 2	15
1949		PRN006	Parenchymatous Neurosyphilis	15
1950		ERB002	Erb's Palsy	15
1951	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	14
1952		NRD062	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	14
1953	c	CTR128	Cataract 33	14
1954		NRD055	Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum	14
1955		NRD035	Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures	14
1956		TRN074	Turnpenny-Fry Syndrome	14
1957		MCR371	Microcephaly, Growth Deficiency, Seizures, and Brain Malformations	14
1958		PST054	Postinfectious Encephalomyelitis	14
1959	P	INT335	Intellectual Developmental Disorder, Autosomal Recessive 67	13
1960	c	DYS194	Dysautonomia-Like Disorder	13
1961	c	RST013	Restless Legs Syndrome 2	13
1962		BRN112	Brain Dopamine-Serotonin Vesicular Transport Disease	12
1963	c	SYN070	Syngap1-Related Non-Syndromic Intellectual Disability	12
1964		CNT024	Central Nervous System Lipoma	12
1965		MTB009	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	12
1966		NRS002	Neuroaspergillosis	11
1967		MLP003	Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type	11
1968	c	GNT045	Giant Axonal Neuropathy 2	11
1969		NRD066	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements	11
1970	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	11
1971	c	RST021	Restless Legs Syndrome 5	11
1972	P	SYN073	Syngap1-Related Intellectual Disability	11
1973	c	RST019	Restless Legs Syndrome 8	10
1974	c	MYC090	Myoclonus, Familial, 2	10
1975	c	RST015	Restless Legs Syndrome 4	10
1976		CNT030	Central Nervous System Leiomyosarcoma	10
1977		STB003	Setbp1 Disorder	10
1978	c	RST014	Restless Legs Syndrome 3	10
1979	c	INT094	Intermediate Severe Salla Disease	9
1980		CNT002	Central Nervous System Angiosarcoma	9
1981	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	9
1982		CRV015	Cervical Large Cell Neuroendocrine Carcinoma	9
1983		GNR012	Generalized Gangliosidoses	9
1984		PLT011	Pilotto Syndrome	9
1985	c	BNG038	Benign Autosomal Dominant Myopathy	9
1986	P	CNT040	Central Nervous System Mature Teratoma	9
1987	P	CNT039	Central Nervous System Immature Teratoma	9
1988		BRS024	Breast Large Cell Neuroendocrine Carcinoma	9
1989	c	CTR008	Cataract Congenital Autosomal Dominant	8
1990	c	ADL040	Adult Brain Ependymoma	8
1991	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
1992		TCK005	Tucker Syndrome	8
1993	c	CRN093	Craniosynostosis Autosomal Dominant	7
1994		MST010	Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia	7
1995		IRF002	Irf2bpl-Related Disorders	7
1996	c	HYD017	Hydrocephalus Autosomal Recessive	6
1997		BRN116	Brain Stem Medulloblastoma	6
1998		SML035	Small Intestine Carcinoid Neuroendocrine Tumor	5
1999	c	PLY008	Polyneuropathy Due to Drug	5
2000	c	ATS179	Autosomal Recessive Cerebral Atrophy	5
2001		XLN132	X-Linked Intellectual Disability, Schimke Type	5
2002		TTN003	Tetanus	66
2003	P	DYS154	Dystonia	65
2004		MNT002	Mental Depression	65
2005	P	HLP001	Holoprosencephaly	65
2006	c	MCL062	Mucolipidosis Ii Alpha/beta	64
2007		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	63
2008	P	RBL001	Rubella	62
2009		SPN027	Spinal Stenosis	61
2010	P	EPL140	Epilepsy, Idiopathic Generalized	61
2011		PLL001	Pallister-Hall Syndrome	61
2012	c	BCT007	Bacterial Meningitis	61
2013		JPN002	Japanese Encephalitis	60
2014	c	EPL209	Epilepsy, Idiopathic Generalized 10	60
2015		FCL081	Focal Cortical Dysplasia, Type Ii	60
2016	P	OLG002	Oligodendroglioma	60
2017	P	DST002	Distal Arthrogryposis	60
2018	P	FCS002	Fucosidosis	59
2019	c	MCL013	Mucolipidosis Iv	58
2020		INT075	Intracranial Hypertension	57
2021	c	MCL046	Mucolipidosis Iii Alpha/beta	56
2022	P	DYS193	Dystonia 11, Myoclonic	56
2023		ARS001	Aarskog-Scott Syndrome	56
2024		TCK001	Tick-Borne Encephalitis	56
2025	c	TYR012	Tyrosinemia, Type I	55
2026	P	DBT005	Diabetes Insipidus	55
2027	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
2028	c	ADL023	Adult Medulloblastoma	53
2029		GNG002	Ganglioneuroma	53
2030		INT303	Intracranial Hypertension, Idiopathic	52
2031	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	52
2032	c	NMN014	Niemann-Pick Disease, Type C2	52
2033	c	BRD012	Bardet-Biedl Syndrome 11	51
2034		MYL001	Myelitis	51
2035	c	SPN309	Spinocerebellar Ataxia 6	49
2036	c	HLP023	Holoprosencephaly 1	49
2037		PTT041	Pituitary Stalk Interruption Syndrome	49
2038	P	NLX004	Neu-Laxova Syndrome 1	49
2039	c	BRD044	Bardet-Biedl Syndrome 17	48
2040	P	HRN001	Horner's Syndrome	48
2041		HRD026	Hereditary Ataxia	48
2042	c	CNG124	Congenital Rubella	48
2043		BSL008	Basal Ganglia Disease	48
2044	c	BRD013	Bardet-Biedl Syndrome 12	48
2045	P	TYR004	Tyrosinemia	48
2046	P	ERY008	Erythromelalgia	48
2047		NRR001	Neuroretinitis	47
2048	c	MYS051	Myasthenic Syndrome, Congenital, 5	47
2049		TRC010	Trichotillomania	47
2050		SYD002	Sydenham Chorea	47
2051	P	BRB001	Beriberi	46
2052		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	46
2053	c	TYR013	Tyrosinemia, Type Ii	46
2054		DBW001	Dubowitz Syndrome	46
2055	P	DMY001	Demyelinating Polyneuropathy	46
2056	c	LKD010	Leukodystrophy, Hypomyelinating, 2	46
2057		ANP006	Anaplastic Ependymoma	46
2058	P	DNR001	Duane Retraction Syndrome	46
2059	P	HYP263	Hypersomnia	45
2060	P	MCL001	Mucolipidosis	45
2061		SPS005	Spastic Hemiplegia	45
2062	c	BRD020	Bardet-Biedl Syndrome 8	45
2063	c	BRD033	Bardet-Biedl Syndrome 13	45
2064		SPN050	Spinocerebellar Degeneration	45
2065		OLV002	Oliver Syndrome	45
2066	c	ART061	Arthrogryposis, Distal, Type 2a	45
2067		BHR002	Bohring-Opitz Syndrome	45
2068		SCT001	Sciatic Neuropathy	45
2069	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	44
2070	c	BRD011	Bardet-Biedl Syndrome 10	44
2071		WDM004	Wiedemann-Steiner Syndrome	44
2072		TRC023	Trichinosis	44
2073	c	AMY090	Amyotrophic Lateral Sclerosis 8	44
2074		SPS057	Spasticity	44
2075	c	TYR011	Tyrosinemia, Type Iii	43
2076	c	BRD015	Bardet-Biedl Syndrome 3	43
2077		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	43
2078		GRN006	Granulomatous Angiitis	43
2079	P	PLL002	Pellagra	43
2080		BSL009	Basal Ganglia Calcification	43
2081		HRT030	Hartsfield Syndrome	43
2082	c	MCL016	Mucolipidosis Iii Gamma	42
2083	c	RCR002	Recurrent Hypersomnia	42
2084	c	BRD048	Bardet-Biedl Syndrome 18	42
2085		VNC001	Von Economo's Disease	42
2086	c	ART146	Arthrogryposis, Distal, Type 9	42
2087		TXC011	Toxocariasis	42
2088	c	BRD035	Bardet-Biedl Syndrome 15	42
2089	c	ATM075	Autoimmune Encephalitis	42
2090		CRB022	Cerebellar Liponeurocytoma	42
2091	c	HLP024	Holoprosencephaly 2	42
2092		HYP016	Hypochondriasis	41
2093	P	MRN003	Marinesco-Sjogren Syndrome	41
2094	c	LTH007	Lethal Congenital Contracture Syndrome 1	41
2095	c	HLP026	Holoprosencephaly 3	41
2096		MYS054	Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency	41
2097	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	41
2098	c	SPN106	Spinocerebellar Ataxia 5	41
2099		CRB002	Cerebral Primitive Neuroectodermal Tumor	40
2100	c	HLP029	Holoprosencephaly 4	40
2101		KR002	Kuru	40
2102		CVR010	Cavernous Malformation	40
2103	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	40
2104	c	GRS012	Griscelli Syndrome, Type 3	40
2105	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	40
2106	c	DNR003	Duane Retraction Syndrome 1	40
2107		ENC005	Encephalomalacia	40
2108	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	40
2109		ACR041	Acromelic Frontonasal Dysostosis	40
2110	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	40
2111	c	HNT011	Huntington Disease-Like 3	40
2112	c	BRD017	Bardet-Biedl Syndrome 5	39
2113	c	ATM100	Autoimmune Optic Neuritis	39
2114	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	39
2115	P	AXN001	Axonal Neuropathy	39
2116	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	39
2117		HYD001	Hydranencephaly	39
2118		MLY001	Molybdenum Cofactor Deficiency	39
2119		BTR002	Beta-Ureidopropionase Deficiency	38
2120	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	38
2121		INT004	Intraneural Perineurioma	38
2122		CGN005	Cognitive Impairment with or Without Cerebellar Ataxia	38
2123		OLG006	Oligoastrocytoma	38
2124	c	ADL008	Adult Oligodendroglioma	37
2125	c	BRD045	Bardet-Biedl Syndrome 19	36
2126		DNC004	Diencephalic Syndrome	36
2127		CRD043	Ceroid Storage Disease	36
2128	c	ART147	Arthrogryposis, Distal, Type 7	36
2129	c	AMY088	Amyotrophic Lateral Sclerosis 3	36
2130		CRN088	Craniorachischisis	36
2131		DYS003	Dysgraphia	36
2132	P	MYS047	Myasthenic Syndrome, Congenital, 1b, Fast-Channel	36
2133	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	35
2134		TLS001	Tolosa-Hunt Syndrome	35
2135	c	BRD047	Bardet-Biedl Syndrome 16	35
2136		DFF012	Differentiating Neuroblastoma	35
2137		MXD026	Mixed Glioma	35
2138	c	SPN101	Spinocerebellar Ataxia 29	35
2139	c	ATS384	Autosomal Dominant Non-Syndromic Intellectual Disability 2	35
2140		AST002	Astroblastoma	35
2141	c	AMY085	Amyotrophic Lateral Sclerosis 9	35
2142	c	SPN095	Spinocerebellar Ataxia 19	35
2143	P	PRS013	Prosopagnosia	35
2144	c	PRM031	Primary Autosomal Recessive Microcephaly	35
2145	c	ART119	Arthrogryposis, Distal, Type 5	34
2146	c	MCP048	Mucopolysaccharidosis, Type Ivb	34
2147	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
2148	c	SPN266	Spinocerebellar Ataxia 35	34
2149		CHR662	Chromosome 15q13.3 Deletion Syndrome	34
2150		BRN018	Borna Disease	34
2151	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	34
2152		PCH002	Pachygyria	34
2153	c	HLP028	Holoprosencephaly 5	34
2154		CLB026	Colobomatous Microphthalmia	34
2155	c	PNT043	Pontocerebellar Hypoplasia, Type 4	33
2156		PRM004	Primary Amebic Meningoencephalitis	33
2157		PRS064	Persistent Vegetative State	33
2158	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	33
2159		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	33
2160		THY108	Thymic Neuroendocrine Tumor	33
2161		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	33
2162		SPS226	Spastic Paraplegia, Ataxia, and Mental Retardation	33
2163		DDN005	Duodenal Somatostatinoma	33
2164		CRB169	Cerebellar Atrophy, Developmental Delay, and Seizures	32
2165	c	HRD198	Hereditary Dystonia	32
2166	c	ATS385	Autosomal Dominant Non-Syndromic Intellectual Disability 3	32
2167	c	SPN383	Spinocerebellar Ataxia 42	32
2168	c	MCP046	Mucopolysaccharidosis, Type Iiid	32
2169		ATY004	Atypical Neurofibroma	32
2170	c	AMY067	Amyotrophic Lateral Sclerosis 18	32
2171	c	SPN104	Spinocerebellar Ataxia 34	31
2172	P	LTH003	Lethal Congenital Contracture Syndrome	31
2173	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	31
2174	c	AMY083	Amyotrophic Lateral Sclerosis 11	31
2175		NRL001	Neurilemmoma of the Fifth Cranial Nerve	31
2176	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	31
2177		CHR281	Chronic Hiccups	31
2178		CHL033	Childhood Malignant Schwannoma	31
2179	c	AMY059	Amyotrophic Lateral Sclerosis 19	31
2180	c	DYS059	Dystonia 16	31
2181		PSD001	Pseudobulbar Palsy	31
2182		ALK024	Alkuraya-Kucinskas Syndrome	31
2183		ACT032	Acute Hemorrhagic Leukoencephalitis	31
2184	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	30
2185		MDN002	Median Neuropathy	30
2186	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	30
2187		MGL033	Megalocornea-Mental Retardation Syndrome	30
2188		SCH024	Schinzel Giedion Syndrome	30
2189	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
2190		EXT051	Extracranial Arteriovenous Malformation	30
2191		DRG004	Drug-Induced Mental Disorder	30
2192	c	DYS146	Dystonia 24	29
2193	c	CCK003	Cockayne Syndrome Type Ii	29
2194		RVR002	Reversible Cerebral Vasoconstriction Syndrome	29
2195	c	ART112	Arthrogryposis, Distal, Type 10	29
2196	c	ACR084	Aicardi-Goutieres Syndrome 7	29
2197		PLL004	Pallister W Syndrome	28
2198		CHR607	Chorea, Childhood-Onset, with Psychomotor Retardation	28
2199	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	28
2200	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	28
2201		HYD034	Hydromyelia	28
2202	c	JBR026	Joubert Syndrome 15	28
2203	c	ART104	Arthrogryposis, Distal, Type 5d	28
2204		EXT044	Extraventricular Neurocytoma	28
2205	c	DYS162	Dystonia, Juvenile-Onset	27
2206		CLL006	Cellular Neurofibroma	27
2207	c	PRK065	Parkinson Disease 20, Early-Onset	27
2208	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	27
2209	c	BRD050	Bardet-Biedl Syndrome 21	27
2210	c	LKD020	Leukodystrophy, Hypomyelinating, 10	27
2211		GBM001	Gaba Aminotransferase Deficiency	27
2212		RMN002	Ramon Syndrome	27
2213	c	SPN372	Spinocerebellar Ataxia 43	27
2214		BRN137	Bronchial Neuroendocrine Tumor	27
2215	c	ART128	Arthrogryposis, Distal, Type 6	27
2216	c	DYS145	Dystonia 23	27
2217		NRG005	Neurogenic Hypertension	27
2218	c	PNT050	Pontocerebellar Hypoplasia, Type 11	26
2219		MLT011	Multiple Mucosal Neuroma	26
2220	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	26
2221	c	RTT008	Rett Syndrome, Congenital Variant	26
2222	c	LTH039	Lethal Congenital Contracture Syndrome 11	26
2223		ALP085	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	26
2224	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
2225	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	26
2226		CNG538	Congenital Arthrogryposis with Anterior Horn Cell Disease	26
2227		CHR506	Choroideremia, Deafness, and Mental Retardation	26
2228	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	26
2229		HGH001	High Pressure Neurological Syndrome	26
2230	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	26
2231		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	26
2232	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	26
2233		ENC065	Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization	26
2234	c	LKD022	Leukodystrophy, Hypomyelinating, 13	26
2235		BRN097	Brainstem Auditory Evoked Responses	26
2236		DYT006	Dyt-Tor1a	26
2237		MLD017	Mal De Debarquement Syndrome	26
2238	c	ART131	Arthrogryposis, Distal, Type 4	25
2239	c	ATS383	Autosomal Dominant Non-Syndromic Intellectual Disability 1	25
2240		TXC008	Toxic Optic Neuropathy	25
2241	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	25
2242	P	SYN064	Syndromic X-Linked Intellectual Disability	25
2243	c	GST091	Gastrointestinal Neuroendocrine Benign Tumor	25
2244	c	ART122	Arthrogryposis, Distal, Type 8	25
2245	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	25
2246		NNS032	Non-Syndromic X-Linked Intellectual Disability	25
2247	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	25
2248	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	25
2249		PHC018	Phace Association	25
2250	c	LTH031	Lethal Congenital Contracture Syndrome 6	25
2251		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	25
2252		MRC001	Marchiafava Bignami Disease	24
2253	c	LKD023	Leukodystrophy, Hypomyelinating, 12	24
2254	c	BRD051	Bardet-Biedl Syndrome 20	24
2255	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
2256	c	HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	24
2257	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	24
2258		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	24
2259	P	SPN039	Spinal Canal and Spinal Cord Meningioma	24
2260		INT312	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	24
2261		LSS039	Lissencephaly 6 with Microcephaly	24
2262	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	24
2263		SPN187	Spinocerebellar Atrophy	24
2264	c	CRN216	Craniosynostosis 5	24
2265		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	24
2266	c	INF065	Infantile Hypotonia	24
2267		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	24
2268	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	24
2269	c	HLP016	Holoprosencephaly 11	24
2270		MYP086	Myopathy with Extrapyramidal Signs	24
2271		SPN368	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	24
2272	c	MYS060	Myasthenic Syndrome, Congenital, 4b, Fast-Channel	23
2273	c	LTH047	Lethal Congenital Contracture Syndrome 3	23
2274		INT110	Intracranial Cysts	23
2275		PRS053	Parsonage Turner Syndrome	23
2276	c	LTH032	Lethal Congenital Contracture Syndrome 7	23
2277	c	JBR035	Joubert Syndrome 24	23
2278	c	DYS172	Dystonia 27	23
2279	c	MNT181	Mental Retardation, Autosomal Recessive 35	23
2280	P	CFL005	Cafe-Au-Lait Spots, Multiple	23
2281		LWR016	Lowry-Maclean Syndrome	23
2282	c	NLX003	Neu-Laxova Syndrome 2	23
2283		OHT001	Ohtahara Syndrome	23
2284		ALC013	Alcohol-Induced Mental Disorder	23
2285		MNT256	Mental Retardation, Buenos Aires Type	23
2286	c	SPS042	Spastic Paraplegia 9	23
2287	c	PRP105	Peripheral Nervous System Benign Neoplasm	23
2288		CMB041	Combined Oxidative Phosphorylation Deficiency 13	23
2289		MNN022	Meningoencephalocele	23
2290		SHS001	Shashi-Pena Syndrome	23
2291	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
2292	c	LTH029	Lethal Congenital Contracture Syndrome 9	23
2293		CLR029	Clark-Baraitser Syndrome	22
2294	c	DYS138	Dystonia 21	22
2295		MGL027	Megalocornea-Intellectual Disability Syndrome	22
2296		CMB054	Combined Oxidative Phosphorylation Deficiency 23	22
2297	c	MYS070	Myasthenic Syndrome, Congenital, 19	22
2298	c	LTH030	Lethal Congenital Contracture Syndrome 8	22
2299		YNH001	Yuan-Harel-Lupski Syndrome	22
2300	c	LKD029	Leukodystrophy, Hypomyelinating, 16	22
2301	c	JBR027	Joubert Syndrome 16	22
2302		LKD026	Leukodystrophy, Progressive, Early Childhood-Onset	22
2303	c	ENC060	Encephalopathy, Acute, Infection-Induced 1	22
2304	c	EPL084	Epilepsy, Idiopathic Generalized 11	22
2305	c	MYS065	Myasthenic Syndrome, Congenital, 18	22
2306	c	AMY063	Amyotrophic Lateral Sclerosis 20	22
2307	c	PRS058	Prosopagnosia, Hereditary	22
2308		MCD002	Mcdonough Syndrome	22
2309		CRB087	Cerebral Arteriosclerosis	22
2310		PRV020	Periventricular Heterotopia with Microcephaly, Autosomal Recessive	22
2311	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	22
2312	c	MNT162	Mental Retardation, Autosomal Recessive 24	22
2313	c	HLP022	Holoprosencephaly 8	21
2314	c	MCR262	Microphthalmia, Syndromic 4	21
2315	c	EPL086	Epilepsy, Idiopathic Generalized 9	21
2316	P	ALP068	Alopecia-Intellectual Disability Syndrome	21
2317		MDR006	Moderate and Severe Traumatic Brain Injury	21
2318	c	AMY110	Amyotrophic Lateral Sclerosis 24	21
2319	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	21
2320	c	MYS049	Myasthenic Syndrome, Congenital, 3b, Fast-Channel	21
2321		MTP004	Metaphyseal Acroscyphodysplasia	21
2322	c	MNT172	Mental Retardation, Autosomal Recessive 25	21
2323		URM001	Uremic Neuropathy	21
2324	c	HRN024	Horner Syndrome, Congenital	21
2325	c	MNT165	Mental Retardation, Autosomal Recessive 28	21
2326		NRP027	Neuropathy, Painful	21
2327		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	21
2328		JBR046	Jaberi-Elahi Syndrome	21
2329	c	MNT163	Mental Retardation, Autosomal Recessive 30	20
2330	c	MNT182	Mental Retardation, Autosomal Recessive 19	20
2331		YHV001	You-Hoover-Fong Syndrome	20
2332		HRS002	Hersh Podruch Weisskopk Syndrome	20
2333		7Q1002	7q11.23 Duplication Syndrome	20
2334	P	CRB125	Cerebral Palsy, Spastic Quadriplegic, 1	20
2335	c	ATS358	Autism X-Linked 6	20
2336	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	20
2337	c	MNT170	Mental Retardation, Autosomal Recessive 23	20
2338		HYP707	Hypertrophic Olivary Degeneration	20
2339	c	MNT167	Mental Retardation, Autosomal Recessive 16	20
2340	c	FLN007	Flna-Related Periventricular Nodular Heterotopia	20
2341	c	ENC063	Encephalopathy, Acute, Infection-Induced 7	20
2342	c	EPL098	Epilepsy, Idiopathic Generalized 12	20
2343	c	EPL205	Epilepsy, Idiopathic Generalized 13	20
2344	c	ART060	Arthrogryposis, Distal, Type 1b	20
2345		MCR052	Microcephaly Microcornea Syndrome Seemanova Type	20
2346	c	SYN078	Syndromic X-Linked Intellectual Disability Type 10	20
2347		EPL166	Epilepsy, Early-Onset, Vitamin B6-Dependent	20
2348		TBL027	Tubulinopathy-Associated Dysgyria	20
2349	c	MNT180	Mental Retardation, Autosomal Recessive 33	20
2350		SPN086	Spinal Intradural Arachnoid Cysts	20
2351		HRS003	Hirschsprung Disease Ganglioneuroblastoma	20
2352	c	EPL093	Epilepsy, Idiopathic Generalized 7	20
2353		BRC121	Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation	20
2354		CMB078	Combined Oxidative Phosphorylation Deficiency 32	20
2355	c	LTH026	Lethal Congenital Contracture Syndrome 4	20
2356		OCL043	Oculorenocerebellar Syndrome	19
2357	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
2358	c	MNT161	Mental Retardation, Autosomal Recessive 29	19
2359	c	AMY112	Amyotrophic Lateral Sclerosis 25	19
2360		MLT146	Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism	19
2361	c	ATS268	Autism X-Linked 4	19
2362	c	EPL165	Epilepsy, Idiopathic Generalized 14	19
2363	c	SPS038	Spastic Paraplegia 39	19
2364	c	AMY062	Amyotrophic Lateral Sclerosis 12	19
2365	c	AMY108	Amyotrophic Lateral Sclerosis 23	19
2366		INF036	Inflammatory and Toxic Neuropathy	19
2367	c	DNR004	Duane Retraction Syndrome 2	19
2368	c	DYS175	Dystonia 26, Myoclonic	19
2369		EPL162	Epilepsy-Telangiectasia	18
2370	c	BMN004	Biemond Syndrome Ii	18
2371		KZL006	Kozlowski-Krajewska Syndrome	18
2372		MYS050	Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency	18
2373		ICH065	Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation	18
2374		KNN010	Kennerknecht Syndrome	18
2375		CHR397	Chromosome Xp11.3 Deletion Syndrome	18
2376	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
2377	c	MNT160	Mental Retardation, Autosomal Recessive 31	18
2378	c	PLL014	Pellagra-Like Syndrome	18
2379		EXT039	Extrapontine Myelinolysis	18
2380		PTR028	Pterygia, Mental Retardation, and Distinctive Craniofacial Features	18
2381	c	BSL032	Basal Ganglia Calcification, Idiopathic, 4	18
2382		HYP688	Hypospadias-Mental Retardation Syndrome	18
2383		IDP081	Idiopathic Hypertrophic Pachymeningitis	18
2384		ECT090	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum	18
2385	c	SYN082	Syndromic X-Linked Intellectual Disability 14	18
2386		MRF017	Marfanoid Mental Retardation Syndrome, Autosomal	18
2387	c	ENC037	Encephalopathy, Acute, Infection-Induced 6	18
2388		EXT008	Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor	17
2389	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	17
2390	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	17
2391	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	17
2392		RSS027	Russell-Silver Syndrome, X-Linked	17
2393		FXG001	Foxg1 Syndrome	17
2394		CRB053	Cerebellar Agenesis	17
2395		MYS063	Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency	17
2396		DXT003	Dextrocardia with Unusual Facies and Microphthalmia	17
2397		CNT034	Central Nervous System Childhood Germ Cell Tumor	17
2398	c	MNT247	Mental Retardation, X-Linked 73	17
2399	c	DYS058	Dystonia 15, Myoclonic	17
2400		MNT030	Mental Retardation Syndrome, Belgian Type	17
2401		SDM003	Sodium Channelopathy-Related Small Fiber Neuropathy	17
2402	c	ART054	Arthrogryposis, Distal, Type 2e	17
2403		WHT018	White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	17
2404		LJN002	Lujan Syndrome	17
2405		OPH013	Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency	17
2406		ARL006	Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation	17
2407	c	ATS387	Autosomal Dominant Non-Syndromic Intellectual Disability 5	17
2408		SPN344	Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation	17
2409		SPS047	Spastic Paraplegia with Precocious Puberty	17
2410		ACT235	Acute Macular Neuroretinopathy	17
2411	c	ART156	Arthrogryposis, Distal, Type 2b2	17
2412	c	CNT032	Central Nervous System Adult Germ Cell Tumor	17
2413	c	ART157	Arthrogryposis, Distal, Type 2b3	16
2414		SYP004	Syphilitic Aseptic Meningitis	16
2415	c	HRD156	Hereditary Central Diabetes Insipidus	16
2416		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	16
2417	c	MNT204	Mental Retardation, X-Linked 23	16
2418		BRC089	Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	16
2419	c	EPL091	Epilepsy, Idiopathic Generalized 3	16
2420		SNR002	Sener Syndrome	16
2421		MNT255	Mental Retardation and Psoriasis	16
2422		ART029	Aortic Arch Anomaly with Peculiar Facies and Mental Retardation	16
2423		ADL042	Adult Malignant Schwannoma	16
2424	c	NRN038	Neuronal Intestinal Dysplasia, Type B	16
2425	c	ATS386	Autosomal Dominant Non-Syndromic Intellectual Disability 4	16
2426		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	16
2427		DND020	Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy	16
2428		CBT001	Cubitus Valgus with Mental Retardation and Unusual Facies	16
2429	c	EPL208	Epilepsy, Idiopathic Generalized 8	16
2430	c	MNT194	Mental Retardation, X-Linked 50	16
2431		MNT253	Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis	16
2432	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	16
2433	c	SYN056	Syndromic X-Linked Intellectual Disability 7	16
2434		CHM001	Cahmr Syndrome	15
2435		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	15
2436		BRN122	Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	15
2437		CHR580	Choroid Plexus Calcification and Mental Retardation	15
2438		PRD033	Periodic Paralysis with Later-Onset Distal Motor Neuropathy	15
2439	c	MNT202	Mental Retardation, X-Linked 53	15
2440	c	EPL236	Epilepsy, Idiopathic Generalized 15	15
2441		SYR007	Syringohydromyelia	15
2442		HRD035	Hair Defect with Photosensitivity and Mental Retardation	15
2443		NNP016	Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy	15
2444		ALP090	Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism	15
2445		MYC032	Myoclonic Encephalopathy of Infants	15
2446	c	TRT014	Teratoma of the Central Nervous System	15
2447		ACT236	Acute Motor and Sensory Axonal Neuropathy	15
2448	c	NNS019	Nonsyndromic Holoprosencephaly	15
2449		SPS195	Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation	15
2450		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	15
2451	c	ACQ034	Acquired Central Diabetes Insipidus	15
2452	c	ENC062	Encephalopathy, Acute, Infection-Induced 5	15
2453	c	ALP075	Alopecia-Mental Retardation Syndrome 2	14
2454		ECT104	Ectodermal Dysplasia with Mental Retardation and Syndactyly	14
2455		5Q1001	5q14.3 Microdeletion Syndrome	14
2456	c	HLP021	Holoprosencephaly 6	14
2457		SYN079	Syndromic X-Linked Intellectual Disability Siderius Type	14
2458		EHL082	Ehlers-Danlos Syndrome, Beasley-Cohen Type	14
2459		ACT162	Acute Sensory Ataxic Neuropathy	14
2460		SPS194	Spastic Paresis, Glaucoma, and Mental Retardation	14
2461	c	DST092	Distal Hereditary Motor Neuropathy Type 7	14
2462		CRM010	Cramp-Fasciculation Syndrome	14
2463	P	MXD039	Mixed Germ Cell Tumor of Central Nervous System	14
2464		CRN103	Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig	14
2465	P	BMN001	Biemond Syndrome	14
2466		CHL027	Childhood Central Nervous System Germinoma	14
2467		OHD002	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant	14
2468		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	14
2469		NRN023	Neuroendocrine Cell Hyperplasia of Infancy	14
2470		MTR081	Motor Neuron Disease with Dementia and Ophthalmoplegia	14
2471		INT343	Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects	14
2472		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	14
2473		FTZ003	Fitzsimmons Syndrome	14
2474		CNT103	Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	14
2475		SPS193	Spastic Paraplegia, Epilepsy, and Mental Retardation	14
2476		THY092	Thymic Neuroendocrine Carcinoma	14
2477		SPT020	Spatial Visualization, Aptitude for	13
2478		ACT161	Acute Pandysautonomia	13
2479		CTS046	Cutis Verticis Gyrata and Mental Retardation	13
2480	c	ATS390	Autosomal Dominant Non-Syndromic Intellectual Disability 9	13
2481		PLT021	Pili Torti and Developmental Delay	13
2482		UVL008	Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability	13
2483		DVR003	Devriendt Syndrome	13
2484		CCH008	Cochlear Nerve Deficiency	13
2485		NRN032	Neuroendocrine Tumor of Anal Canal	13
2486		INF124	Infundibulo-Neurohypophysitis	13
2487		MNT315	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism	13
2488		GLL034	Gallbladder Neuroendocrine Tumor	13
2489	c	INT345	Intellectual Developmental Disorder, Autosomal Recessive 70	13
2490	c	KMT002	Kmt2b-Related Dystonia	13
2491	c	SPR105	Sporadic Fetal Brain Disruption Sequence	13
2492		EXT024	Extracranial Neuroblastoma	13
2493		PRP018	Peripheral Nerve Schwannoma	13
2494		DWR021	Dwarfism, Mental Retardation, and Eye Abnormality	13
2495	c	ALP063	Alopecia-Mental Retardation Syndrome 3	13
2496		RVN001	Ravine Syndrome	13
2497		INT342	Intellectual Developmental Disorder, X-Linked 108	13
2498	c	MNT205	Mental Retardation, X-Linked 42	13
2499		SCL044	Scalp Syndrome	13
2500		STR102	Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features	12
2501		MNT316	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	12
2502		MND028	Mandibulofacial Dysostosis with Mental Retardation	12
2503	c	EPL089	Epilepsy, Idiopathic Generalized 4	12
2504		PRK068	Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments	12
2505	c	SCN066	Secondary Erythromelalgia	12
2506	c	CHR571	Charcot-Marie-Tooth Disease Type 5	12
2507		CHR628	Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type	12
2508	c	EPL090	Epilepsy, Idiopathic Generalized 5	12
2509		SHR089	Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	12
2510		HYP816	Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes	12
2511		SPN396	Spinal Muscular Atrophy with Mental Retardation	12
2512		CLC058	Clcn2-Related Leukoencephalopathy	12
2513		CHL150	Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter	12
2514		CRM012	Cree Mental Retardation Syndrome	12
2515		PLN009	Palant Cleft Palate Syndrome	12
2516		CMR005	Camera-Marugo-Cohen Syndrome	12
2517		XLN204	X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	12
2518	c	CHR553	Charcot-Marie-Tooth Disease Type 2q	12
2519		XLN128	X-Linked Intellectual Disability, Abidi Type	12
2520		MBS006	Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	12
2521		INT286	Intellectual Disability-Spasticity-Ectrodactyly Syndrome	12
2522		NRL021	Neurologic Disease, Infantile Multisystem, with Osseous Fragility	12
2523	c	INT344	Intellectual Developmental Disorder, Autosomal Recessive 69	11
2524	c	CHR315	Charcot-Marie-Tooth Neuropathy Type 4j	11
2525		DFN340	Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease	11
2526	c	EPL092	Epilepsy, Idiopathic Generalized 2	11
2527	c	CHR121	Charcot-Marie-Tooth Neuropathy X Type 5	11
2528		MDN009	Median-Ulnar Nerve Communications	11
2529		PCN001	Pacinian Tumor	11
2530	c	ATS394	Autosomal Dominant Mental Retardation 55	11
2531	c	CHR551	Charcot-Marie-Tooth Disease Type 2o	11
2532		FCL076	Facial Abnormalities, Kyphoscoliosis, and Mental Retardation	11
2533		CTR179	Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy	11
2534		MSC159	Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers	11
2535		PRN067	Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness	10
2536		SPN388	Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy	10
2537		ART149	Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies	10
2538		NRP050	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	10
2539	P	OPT029	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant	10
2540		RCR030	Recurrent Idiopathic Neuroretinitis	10
2541	c	PRM246	Primary Tethered Cord Syndrome	10
2542		NRN039	Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia	10
2543		ART055	Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies	10
2544		NRD063	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination	10
2545		MDD017	Middle Ear Neuroendocrine Tumor	10
2546		AMY015	Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation	10
2547		NRF004	Neurofibroma of the Esophagus	10
2548		LRY052	Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy	10
2549		MNT250	Mental Retardation with Spastic Paraplegia	10
2550	c	FCS008	Fucosidosis Type 1	10
2551		CRB178	Cerebellar Ataxia and Neurosensory Deafness	10
2552		NDL022	Nodular Neuronal Heterotopia	10
2553		XLN092	X-Linked Neurodegenerative Syndrome, Bertini Type	10
2554		VTL010	Vitiligo, Progressive, with Mental Retardation and Urethral Duplication	10
2555		HRD179	Hair Defect-Photosensitivity-Intellectual Disability Syndrome	10
2556		EPT006	Epithelioid Neurofibroma	9
2557		MLG153	Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation	9
2558		HYP783	Hypogonadism with Low-Grade Mental Deficiency and Microcephaly	9
2559		HRD175	Hereditary Motor and Sensory Neuropathy with Acrodystrophy	9
2560		TNK001	Tonoki Syndrome	9
2561	c	ALP081	Alopecia Intellectual Disability Syndrome 2	9
2562		NRP061	Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia	9
2563		CTS047	Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation	9
2564		XLN091	X-Linked Neurodegenerative Syndrome, Hamel Type	9
2565		SPN397	Spinal Muscular Atrophy with Microcephaly and Mental Subnormality	9
2566		MNT299	Mental and Growth Retardation with Amblyopia	9
2567		MSC144	Muscular Atrophy, Malignant Neurogenic	9
2568		LNT009	Lentiginosis, Centrofacial Neurodysraphic	9
2569		PNF002	Painful Legs and Moving Toes Syndrome	9
2570		NRP052	Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine	9
2571		CHD003	Chudley Rozdilsky Syndrome	9
2572		MYL068	Myelinated Optic Nerve Fibers	9
2573		SYN091	Syndromic X-Linked Intellectual Disability Nascimento Type	8
2574		ELC003	Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus	8
2575		OHD001	Ohdo Syndrome, Maat-Kievit-Brunner Type	8
2576	P	CRN291	Cranial Nerves, Recurrent Paresis of	8
2577		EPL197	Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation	8
2578		IND013	Indolylacroyl Glycinuria with Mental Retardation	8
2579		SCR041	Sucrosuria, Hiatus Hernia and Mental Retardation	8
2580		NRD064	Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion	8
2581		JJN001	Jejunal Somatostatinoma	8
2582		PFF002	Pfeiffer Kapferer Syndrome	8
2583		OPH019	Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria	8
2584	c	MRN006	Marinesco-Sjogren-Like Syndrome	8
2585	c	ATS417	Autosomal Dominant Non-Syndromic Intellectual Disability 19	8
2586		TBL001	Tibial Nerve Palsy	8
2587		DSL004	Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation	8
2588	c	SYN077	Syndromic X-Linked Intellectual Disability 12	8
2589		PSD115	Pseudouridinuria and Mental Defect	8
2590		PRP104	Prepubertal Anorexia Nervosa	8
2591		CRT047	Creatine Kinase, Brain Type, Ectopic Expression of	8
2592		HYP797