Neuronal Diseases Category (6101 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	54
4	c	GLY008	Glycogen Storage Disease Ii	67
5	c	GLY060	Glycogen Storage Disease Ia	62
6	c	GLY003	Glycogen Storage Disease Iii	62
7	P	GLY013	Glycogen Storage Disease	62
8	c	GLY005	Glycogen Storage Disease Vi	57
9	c	GLY004	Glycogen Storage Disease V	55
10	c	GLY007	Glycogen Storage Disease Iv	52
11	c	GLY011	Glycogen Storage Disease Vii	52
12	c	GLY098	Glycogen Storage Disease, Type Ixd	40
13	c	GLY023	Glycogen Storage Disease Type 0	39
14	c	GLY044	Glycogen Storage Disease Ixc	38
15	c	GLY016	Glycogen Storage Disease Ib	36
16	c	GLY097	Glycogen Storage Disease Ixb	29
17	c	GLY017	Glycogen Storage Disease Ic	29
18	c	GLY009	Glycogen Storage Disease Xv	29
19	c	GLY043	Glycogen Storage Disease Xii	28
20	c	GLY057	Glycogen Storage Disease X	28
21	c	GLY006	Glycogen Storage Disease Viii	26
22	c	GLY001	Glycogen Storage Disease Ix	23
23	c	GLY059	Glycogen Storage Disease Xiii	22
24	c	GLY093	Glycogen Storage Disease Ixa	16
25		LKN026	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	32
26	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	40
27	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	57
28		NRP051	Neuropathy, Hereditary, with Liability to Pressure Palsies	59
29	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	46
30		MNT304	Mental Retardation, X-Linked, with or Without Seizures, Arx-Related	20
31		HYP186	Hypertrophic Neuropathy of Dejerine-Sottas	48
32		BRN028	Brain Cancer	74
33	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	59
34		MTC016	Mitochondrial Neurogastrointestinal Encephalopathy Disease	32
35		MTC036	Mitochondrial Membrane Protein-Associated Neurodegeneration	27
36		ABD002	Abducens Nerve Disease	42
37	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	60
38	c	CRD225	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant	27
39		NRM016	Neuromyotonia and Axonal Neuropathy, Autosomal Recessive	31
40	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	35
41	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	44
42	P	NRP063	Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	54
43		PTT059	Pettigrew Syndrome	44
44		DBT087	Diabetes Insipidus, Neurohypophyseal	62
45		PNC119	Pancreatic Neuroendocrine Tumor	49
46		MNT303	Mental Retardation, X-Linked, Syndromic, Cabezas Type	29
47	c	DST030	Distal Hereditary Motor Neuropathy, Type V	25
48	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	61
49	P	GNT009	Giant Axonal Neuropathy	52
50	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	42
51		CMB026	Combined Oxidative Phosphorylation Deficiency 12	28
52	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	26
53		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	37
54		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	43
55		BRN048	Brain Stem Cancer	40
56	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	37
57		HYP530	Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity	26
58		INT319	Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	29
59		MLG077	Malignant Peripheral Nerve Sheath Tumor	60
60		ACS001	Acoustic Neuroma	62
61	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	37
62		INS023	Insensitivity to Pain, Congenital, with Anhidrosis	48
63	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	47
64	P	NRD007	Neurodegeneration with Brain Iron Accumulation	49
65	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	43
66		SPN040	Spinal Cancer	42
67		CWC001	Cowchock Syndrome	36
68		ATH001	Athabaskan Brainstem Dysgenesis Syndrome	28
69	P	CHR654	Charcot-Marie-Tooth Disease, Axonal, Type 2e	53
70	c	ATS421	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect	9
71		CNC002	Cinca Syndrome	65
72		ART127	Arthrogryposis Multiplex Congenita, Neurogenic Type	37
73	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	34
74	P	PRP019	Peripheral Nervous System Disease	66
75	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	50
76	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
77	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	38
78	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	38
79	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	37
80	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	36
81	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	35
82	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	35
83	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
84	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
85	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
86	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	33
87	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
88	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
89	P	NRP059	Neuropathy, Hereditary Motor and Sensory, Type Via	31
90	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	31
91	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
92	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
93	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	29
94	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	29
95	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	28
96	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	28
97	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	28
98	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	28
99	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	27
100	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
101	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	27
102	c	SPN335	Spinocerebellar Ataxia Type 1 with Axonal Neuropathy	27
103	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
104	c	SPS036	Spastic Paraplegia 3	26
105	c	SPS091	Spastic Paraplegia 4	26
106	c	SPS021	Spastic Paraplegia 10	26
107	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
108	c	HRD186	Hereditary Spastic Paraplegia 51	26
109	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	25
110	c	SPS027	Spastic Paraplegia 17	24
111	c	SPS041	Spastic Paraplegia 6	20
112	c	SPS023	Spastic Paraplegia 13	19
113	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	19
114	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	19
115	c	SPS028	Spastic Paraplegia 18	19
116	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	18
117	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	18
118	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	18
119	c	SPS034	Spastic Paraplegia 26	18
120	c	SPS032	Spastic Paraplegia 24	18
121	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	18
122	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	17
123	c	SPS029	Spastic Paraplegia 19	17
124	c	SPS035	Spastic Paraplegia 29	17
125	c	SPS033	Spastic Paraplegia 25	17
126	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	17
127	c	SPS080	Spastic Paraplegia 51	16
128	c	SPS026	Spastic Paraplegia 16	16
129	c	SPS161	Spastic Paraplegia 32	16
130	c	HRD188	Hereditary Spastic Paraplegia 72	16
131	c	SPS022	Spastic Paraplegia 12	16
132	c	SPS024	Spastic Paraplegia 14	15
133	c	SPS040	Spastic Paraplegia 5b	12
134	c	SPS230	Spastic Paraplegia Type 49	12
135	c	SPS165	Spastic Paraplegia 47	11
136	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
137	P	CHR625	Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	50
138	c	NRN040	Neuronopathy, Distal Hereditary Motor, Type Viib	25
139		NRP049	Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux	20
140	P	NRV006	Nervous System Cancer	60
141		CRP001	Carpal Tunnel Syndrome	72
142	P	CRB185	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1	49
143		ENC039	Encephalopathy, Familial, with Neuroserpin Inclusion Bodies	43
144		ATX010	Ataxia Neuropathy Spectrum	39
145	c	HRD138	Hereditary Motor and Sensory Neuropathy V	31
146		NRD024	Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart	23
147		SPL051	Split Spinal Cord Malformation	23
148		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	51
149		PRT052	Partington X-Linked Mental Retardation Syndrome	41
150	c	PRM039	Primary Angiitis of the Central Nervous System	35
151	c	NRN037	Neuronopathy, Distal Hereditary Motor, Type Va	29
152		CSY002	Coasy Protein-Associated Neurodegeneration	18
153	P	HRD021	Hereditary Sensory Neuropathy	50
154		MSS001	Masa Syndrome	47
155		MLN073	Melanosis, Neurocutaneous	40
156		MGR035	Migraine with Brainstem Aura	21
157	c	AMY091	Amyotrophic Lateral Sclerosis 1	90
158		MCL009	Mcleod Syndrome	48
159	c	CHR646	Charcot-Marie-Tooth Disease, Axonal, Type 2b	41
160	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	31
161	c	AMY089	Amyotrophic Lateral Sclerosis 7	27
162	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
163	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	23
164	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	14
165	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	11
166	c	TRD001	Tardbp-Related Amyotrophic Lateral Sclerosis	10
167	P	NRF023	Neurofibromatosis, Type Ii	76
168	c	NRF024	Neurofibromatosis, Type I	69
169	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	49
170		RBF002	Riboflavin Transporter Deficiency Neuronopathy	17
171		MSC077	Muscle Eye Brain Disease	45
172		CRB069	Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome	42
173	c	CHR647	Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	38
174		MHM001	Mehmo Syndrome	33
175		NRD030	Neurodegeneration, Childhood-Onset, with Brain Atrophy	20
176		PCK003	Pick Disease of Brain	66
177		MLT075	Multifocal Motor Neuropathy	50
178	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	47
179	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	38
180	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	34
181	c	CHR026	Charcot-Marie-Tooth Disease Type X	24
182	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	23
183	c	FVL008	Foveal Hypoplasia 2	23
184	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
185	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	18
186	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	16
187	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
188	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	14
189	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	12
190	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
191	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
192	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
193	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
194	c	CHR572	Charcot-Marie-Tooth Disease Type 7	8
195	P	CHR071	Charcot-Marie-Tooth Disease	65
196		NRT001	Neurotic Disorder	48
197	P	ADT009	Auditory Neuropathy Spectrum Disorder	37
198	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	34
199	c	NRN025	Neuronopathy, Distal Hereditary Motor, Type Viia	27
200		MNT229	Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance	26
201	P	HYP553	Hyperphosphatasia with Mental Retardation Syndrome 3	22
202	c	FRT006	Fourth Cranial Nerve Palsy, Familial Congenital	19
203	P	PLZ001	Pelizaeus-Merzbacher Disease	66
204	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	62
205	c	CHR627	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	56
206	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	55
207		ATN002	Autonomic Nervous System Disease	54
208	c	CNT033	Central Nervous System Cancer	53
209	c	GRS014	Griscelli Syndrome, Type 2	49
210	P	OPT070	Optic Nerve Hypoplasia, Bilateral	49
211		CRB151	Cerebral Creatine Deficiency Syndrome 1	49
212	c	GRS013	Griscelli Syndrome, Type 1	40
213	c	MNT143	Mental Retardation, Autosomal Dominant 13	38
214	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	37
215		MNT046	Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia	36
216	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	34
217	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	33
218	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	32
219	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	30
220		MBD001	Mbd5 Haploinsufficiency	28
221	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	26
222	c	MNT301	Mental Retardation, X-Linked 21	23
223	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	22
224	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	20
225		SCP005	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	17
226		SPN186	Spinal Cord Injury	66
227		TXC002	Toxic Encephalopathy	57
228		NRN004	Neuroendocrine Tumor	56
229		CHR105	Choreoacanthocytosis	48
230		PRP066	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	47
231		MTR007	Motor Peripheral Neuropathy	41
232	c	ADT007	Auditory Neuropathy, Autosomal Dominant, 1	29
233		LKN010	Leukoencephalopathy with Dystonia and Motor Neuropathy	24
234		NRP009	Neuropathy, Hereditary Motor and Sensory, Okinawa Type	24
235		RYN006	Raynaud-Claes Syndrome	23
236	c	NRN024	Neuronopathy, Distal Hereditary Motor, Type Vb	22
237	P	NRN021	Neuronal Ceroid Lipofuscinosis	62
238	P	PRP021	Peripheral Nervous System Neoplasm	51
239	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	43
240		CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	32
241	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	29
242		MNT056	Mental Retardation, X-Linked, Syndromic, Nascimento Type	25
243	c	MNT258	Mental Retardation, X-Linked, Syndromic, Wu Type	23
244		CRP034	Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia	22
245	c	NRN018	Neuronopathy, Distal Hereditary Motor, Type Iic	21
246	c	NRN041	Neuronopathy, Distal Hereditary Motor, Type Iib	21
247	c	NRN026	Neuronopathy, Distal Hereditary Motor, Type Iid	20
248	c	NRN035	Neuronopathy, Distal Hereditary Motor, Type Iia	19
249		CHR639	Chromosome Xp11.22 Duplication Syndrome	14
250		EPD081	Epidermoid Brain Cyst	13
251	P	CTS001	Cutis Laxa	62
252		BLM002	Bulimia Nervosa	61
253	c	NMN016	Niemann-Pick Disease, Type B	59
254		ERY029	Erythermalgia, Primary	58
255	c	NMN013	Niemann-Pick Disease, Type a	58
256		BRJ001	Borjeson-Forssman-Lehmann Syndrome	54
257	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
258	P	NMN002	Niemann-Pick Disease	50
259	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	49
260	c	CTS045	Cutis Laxa, Autosomal Dominant 1	46
261		LBS001	Lubs X-Linked Mental Retardation Syndrome	45
262		WLS003	Wilson-Turner X-Linked Mental Retardation Syndrome	44
263		NRF008	Neurofibromatosis-Noonan Syndrome	43
264	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	39
265	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	38
266	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
267	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	36
268	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	33
269	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	31
270	c	ACQ027	Acquired Cutis Laxa	30
271	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
272		SCP002	Scapuloperoneal Spinal Muscular Atrophy	29
273	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
274	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
275		FCL042	Facial Onset Sensory and Motor Neuronopathy	22
276	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
277		RJB002	Rajab Interstitial Lung Disease with Brain Calcifications	21
278		RTN207	Retinopathy, Pigmentary, and Mental Retardation	20
279	c	LTB003	Ltbp4-Related Cutis Laxa	16
280	c	EFM001	Efemp2-Related Cutis Laxa	14
281	c	FBL003	Fbln5-Related Cutis Laxa	8
282	P	GRN052	Grin2b-Related Neurodevelopmental Disorder	8
283		MTR014	Motor Neuron Disease	60
284		SNS003	Sensory Peripheral Neuropathy	56
285		CNT019	Central Neurocytoma	48
286	c	GNT049	Giant Axonal Neuropathy 1, Autosomal Recessive	43
287	c	CRD226	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive	38
288		WCK001	Wieacker-Wolff Syndrome	36
289	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	33
290	c	DST027	Distal Hereditary Motor Neuropathy, Type Ii	31
291		CNG102	Congenital Hypomyelination Neuropathy	21
292		ALP025	Alopecia, Epilepsy, Pyorrhea, Mental Subnormality	12
293	P	VSC017	Visceral Neuropathy Familial	8
294	P	MDL005	Medulloblastoma	77
295	P	BRN035	Brain Stem Glioma	52
296		NRV004	Nerve Compression Syndrome	39
297	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	31
298		PDT045	Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections	29
299		NRP010	Neuropathy, Hereditary Motor and Sensory, Russe Type	29
300	c	MNT296	Mental Retardation, X-Linked, Syndromic 34	26
301		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	22
302	c	MNT305	Mental Retardation, X-Linked 12	20
303		MCR046	Microcephaly Brain Defect Spasticity Hypernatremia	14
304		ACC001	Accessory Nerve Disease	13
305		HYP028	Hypoglossal Nerve Disease	12
306		CRN305	Corneal Neuropathic Disease	6
307		NRF007	Neurofibroma	67
308		DBT010	Diabetic Neuropathy	60
309		LGS001	Legius Syndrome	51
310	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	45
311	c	HYP441	Hyperphosphatasia with Mental Retardation Syndrome 1	31
312		MNT228	Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type	28
313	c	SPN355	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3	21
314		ANG067	Angioma, Hereditary Neurocutaneous	16
315		VGS001	Vagus Nerve Disease	16
316		ANR007	Anorexia Nervosa	68
317		NRM005	Neuromuscular Disease	61
318	P	CFF008	Coffin-Siris Syndrome 1	57
319		NRN001	Neuroendocrine Carcinoma	53
320		CRN031	Cranial Nerve Disease	43
321		CRB139	Cerebellar Ataxia, Nonprogressive, with Mental Retardation	38
322		CRN033	Cranial Nerve Malignant Neoplasm	36
323	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	36
324	c	AMY045	Amyotrophic Lateral Sclerosis 4, Juvenile	34
325	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	30
326	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	27
327	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	26
328	c	NRP036	Neuropathy, Hereditary Sensory, Type if	25
329	P	NRD034	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant	25
330	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	24
331	c	CFF011	Coffin-Siris Syndrome 6	23
332	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	22
333		SYN062	Syncope, Familial Vasovagal	22
334		OLF001	Olfactory Nerve Disease	21
335	c	CFF006	Coffin-Siris Syndrome 5	21
336		PRT015	Partial Third-Nerve Palsy	21
337	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	20
338		SPN350	Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration	20
339		SPS197	Spastic Paraplegia with Neuropathy and Poikiloderma	19
340		SYN092	Syndromic X-Linked Intellectual Disability Cabezas Type	18
341	c	CFF013	Coffin-Siris Syndrome 8	14
342	c	LPD015	Lipodystrophy, Familial Partial, Type 2	61
343	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
344	P	FML012	Familial Partial Lipodystrophy	52
345	c	LPD021	Lipodystrophy, Familial Partial, Type 3	50
346	c	LPD019	Lipodystrophy, Partial, Acquired	45
347	c	LPD040	Lipodystrophy, Familial Partial, Type 1	43
348		NRN016	Neuronal Migration Disorders	39
349		AMY086	Amyotrophy, Hereditary Neuralgic	38
350	c	MTC010	Mitochondrial Dna Depletion Syndrome	37
351	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
352		CNT007	Central Nervous System Tuberculosis	35
353		MNT310	Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type	34
354	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	33
355	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	33
356		JHN004	Johnson Neuroectodermal Syndrome	32
357	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	31
358	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
359	c	NRP062	Neuropathy - Hereditary	28
360	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
361	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
362	c	LPD044	Lipodystrophy, Familial Partial, Type 7	25
363	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
364	c	NRN027	Neuronopathy, Distal Hereditary Motor, Type I	24
365	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	23
366	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	23
367	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
368	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
369		DFN305	Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy	20
370	c	MNT196	Mental Retardation, X-Linked 92	20
371	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
372		RLN001	Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked	17
373	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	16
374	P	MTC014	Mitochondrial Dna Deletion Syndromes	13
375	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	9
376	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	9
377		PNF001	Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome	7
378		ART141	Arteriovenous Malformations of the Brain	60
379	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
380	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	43
381	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	42
382	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
383		TTH004	Tethered Spinal Cord Syndrome	41
384	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
385	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
386	P	MNT319	Mental Retardation, Autosomal Dominant 20	39
387	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
388	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	38
389	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
390		MLN001	Melanotic Neuroectodermal Tumor	34
391	c	CNG379	Congenital Disorder of Glycosylation, Type It	33
392		LJN003	Lujan-Fryns Syndrome	32
393	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	31
394		CRB024	Cerebral Neuroblastoma	31
395	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	31
396	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
397	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	30
398	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
399	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
400	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	29
401	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
402	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	28
403		CRT070	Cortical Dysplasia, Complex, with Other Brain Malformations 1	28
404	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	27
405	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
406	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	27
407	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	26
408	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
409	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
410	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	26
411	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	26
412	c	NRP043	Neuropathy, Hereditary Motor and Sensory, Type Vib	25
413	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	25
414	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
415	c	MNT155	Mental Retardation, Autosomal Recessive 2	25
416	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	24
417	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
418	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	24
419		SLW005	Slowed Nerve Conduction Velocity, Autosomal Dominant	18
420	c	MNT200	Mental Retardation, X-Linked 97	18
421		TRC015	Trochlear Nerve Disease	13
422		ADS006	Aids - Neurological Complications	5
423		OLF005	Olfactory Neuroblastoma	52
424	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	46
425		NRN005	Neuronal Ceroid-Lipofuscinoses	46
426	P	ATS366	Autism X-Linked 2	45
427	c	HRD094	Hereditary Motor and Sensory Neuropathy, Type Iic	41
428	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
429	P	CHR453	Charcot-Marie-Tooth Hereditary Neuropathy	39
430	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	39
431		GLT018	Glut1 Deficiency Syndrome 1	39
432		OPT008	Optic Nerve Neoplasm	37
433		BRN139	Brain Small Vessel Disease 1 with or Without Ocular Anomalies	36
434	P	CNT037	Central Nervous System Germinoma	35
435		NRS005	Neurosarcoidosis	35
436	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	34
437		GLL028	Gillespie Syndrome	33
438	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	32
439		MNT302	Mental Retardation, X-Linked, Syndromic, Christianson Type	31
440		AMY005	Amyloid Neuropathy	31
441	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
442		PRM284	Primitive Neuroectodermal Tumor of the Cervix Uteri	27
443		THR010	Third Cranial Nerve Disease	26
444	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
445	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	25
446	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	25
447	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	25
448	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	25
449	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	24
450		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	24
451	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	24
452		NRG006	Neurogenic Thoracic Outlet Syndrome	24
453	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	24
454	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
455		RCT005	Rectum Neuroendocrine Neoplasm	23
456	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	23
457	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	23
458	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	23
459	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	22
460		NRD057	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	22
461	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	22
462	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	22
463	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	22
464	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	22
465	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	22
466	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	22
467	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	22
468	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	22
469	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	21
470	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	21
471	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	21
472	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	21
473	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	21
474	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	21
475	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	21
476	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	21
477	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	20
478		MCR123	Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy	20
479	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	20
480	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	18
481	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	17
482	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	16
483	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	15
484		SPN045	Spinal Cord Primitive Neuroectodermal Neoplasm	10
485		LWG004	Low-Grade Neuroendocrine Tumor of the Corpus Uteri	8
486		LPS008	Lupus - Neurological Sequelae	6
487	P	NRB001	Neuroblastoma	73
488	P	INT030	Intracranial Aneurysm	60
489		CYS005	Cysticercosis	59
490		ALX003	Alexander Disease	58
491		TRM010	Traumatic Brain Injury	56
492		NRL004	Neuroleptic Malignant Syndrome	51
493		NRF003	Neurofibrosarcoma	43
494		CNV002	Conversion Disorder	43
495		ALP041	Alopecia, Neurologic Defects, and Endocrinopathy Syndrome	38
496	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	38
497	c	CHR653	Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	37
498		BRN005	Brain Glioblastoma Multiforme	36
499		CRT081	Cortical Dysplasia, Complex, with Other Brain Malformations 7	35
500	c	CHR656	Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	33
501	c	TRC101	Trichothiodystrophy 4, Nonphotosensitive	30
502		VST006	Vestibulocochlear Nerve Disease	28
503	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
504		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	27
505		WSM002	Waisman Syndrome	25
506		MNT307	Mental Retardation, X-Linked, Associated with Fragile Site Fraxe	24
507	c	TRC103	Trichothiodystrophy 5, Nonphotosensitive	22
508	c	TRC117	Trichothiodystrophy 6, Nonphotosensitive	20
509	c	CRB195	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3	19
510	c	NRB015	Neuroblastoma 2	19
511	c	NRP065	Neuropathy, Congenital Hypomyelinating, 3	19
512		CMP082	Complex Cortical Dysplasia with Other Brain Malformations	16
513	c	NRN042	Neuronopathy, Distal Hereditary Motor, Type Ix	13
514		LYM055	Lyme Disease - Neurological Complications	7
515	c	INT097	Intracranial Aneurysms Multiple Congenital Anomaly	3
516	P	HNT016	Huntington Disease	74
517		MLT157	Multiple System Atrophy 1	73
518	P	NRV007	Nervous System Disease	72
519		OBS002	Obsessive-Compulsive Disorder	69
520	c	CNT035	Central Nervous System Disease	65
521		ACT049	Acute Disseminated Encephalomyelitis	56
522	c	HNT010	Huntington Disease-Like 1	50
523		EPL118	Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation	44
524	P	GST047	Gastrointestinal Neuroendocrine Tumor	41
525	P	FRT001	Fourth Cranial Nerve Palsy	32
526	c	JVN015	Juvenile Huntington Disease	30
527		ABC001	Abcd Syndrome	30
528		46X053	46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy	29
529	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	27
530		SPN043	Spinal Cord Glioma	27
531		STM015	Stomatin-Deficient Cryohydrocytosis with Neurologic Defects	26
532		PRN033	Paraneoplastic Neurologic Disorders	26
533	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	26
534	c	MNT210	Mental Retardation, Autosomal Recessive 42	26
535	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	25
536		PRP075	Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss	24
537		ALP091	Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	23
538	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	23
539	c	GNT040	Giant Axonal Neuropathy 2, Autosomal Dominant	23
540	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	22
541	c	NRP055	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive	22
542		CNG382	Congenital Cataracts, Hearing Loss, and Neurodegeneration	22
543		STC002	Stocco Dos Santos X-Linked Mental Retardation Syndrome	22
544		HMR018	Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts	22
545	c	MNT236	Mental Retardation, Autosomal Dominant 39	22
546		NRL023	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset	21
547		SPN026	Spinal Cord Lymphoma	21
548		NRD031	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination	21
549		CL4009	Col4a1-Related Familial Vascular Leukoencephalopathy	19
550	c	NRP064	Neuropathy, Congenital Hypomyelinating, 2	19
551		MNT300	Mental Retardation, X-Linked, with Panhypopituitarism	19
552	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	17
553		CYP001	Cyprus Facial Neuromusculoskeletal Syndrome	13
554	c	CL4005	Col4a1-Related Brain Small-Vessel Disease	7
555		CRV044	Cervical Hypertrichosis Peripheral Neuropathy	5
556		LYM017	Lyme Disease	71
557		ATY005	Atypical Teratoid Rhabdoid Tumor	62
558		SPN041	Spinal Cord Disease	55
559		NRS003	Neurosyphilis	47
560		SPR008	Supratentorial Primitive Neuroectodermal Tumor	43
561	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	42
562	P	CRN035	Cranial Nerve Palsy	41
563	P	CRB059	Cerebellar Degeneration	40
564		SPR066	Superficial Siderosis	40
565	P	SPN410	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy	37
566		NRG003	Neurogenic Arthropathy	36
567	c	ATS203	Autosomal Dominant Non-Syndromic Intellectual Disability	35
568		WHT019	White-Sutton Syndrome	35
569		TRS001	Tarsal Tunnel Syndrome	34
570	c	CFF010	Coffin-Siris Syndrome 3	33
571		BRN049	Brain Tumor, Childhood	33
572		ATM098	Autoimmune Peripheral Neuropathy	32
573	P	NNS031	Non-Syndromic Intellectual Disability	32
574	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	31
575		XGB001	Xia-Gibbs Syndrome	31
576	c	PRM015	Primary Cerebellar Degeneration	27
577		OCL003	Oculomotor Nerve Paralysis	27
578		PDT043	Pediatric Acute-Onset Neuropsychiatric Syndrome	26
579		MNT237	Mental Retardation with Language Impairment and with or Without Autistic Features	26
580	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
581		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	26
582	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	25
583	c	MNT270	Mental Retardation, Autosomal Recessive 53	25
584	c	MNT295	Mental Retardation, X-Linked, Syndromic 33	25
585	c	MNT262	Mental Retardation, Autosomal Dominant 42	24
586		CHL057	Childhood Brain Stem Glioma	22
587	c	CRB136	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	22
588		CRT071	Cortical Dysplasia, Complex, with Other Brain Malformations 4	22
589		ARM006	Armfield X-Linked Mental Retardation Syndrome	22
590		CRT067	Cortical Dysplasia, Complex, with Other Brain Malformations 2	20
591		CRT068	Cortical Dysplasia, Complex, with Other Brain Malformations 3	20
592		CRT073	Cortical Dysplasia, Complex, with Other Brain Malformations 5	20
593		CRT074	Cortical Dysplasia, Complex, with Other Brain Malformations 6	20
594		NRF025	Neurofibromatosis, Type Iii, Mixed Central and Peripheral	19
595		RDL001	Radial Nerve Lesion	17
596		DFF020	Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia	16
597		PRN063	Peroneal Nerve, Accessory Deep	16
598		CTR173	Cataract, Ataxia, Short Stature, and Mental Retardation	15
599		HGH030	High-Grade Neuroendocrine Carcinoma of the Cervix Uteri	12
600		XLN174	X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	12
601		NRV002	Nerve Fibre Bundle Defect	11
602		LNG002	Lung Combined Large Cell Neuroendocrine Carcinoma	11
603		SYN083	Syndromic X-Linked Intellectual Disability Shashi Type	10
604		TTL002	Total Third-Nerve Palsy	9
605		MLG073	Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath	8
606		MLG028	Malignant Neoplasm of Acoustic Nerve	8
607		HGH029	High-Grade Neuroendocrine Carcinoma of the Corpus Uteri	8
608		SPN022	Spinal Cord Neuroblastoma	8
609		MCR286	Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome	8
610	c	OPT030	Optic Nerve Hypoplasia, Familial Bilateral	7
611	c	ADL022	Adult Central Nervous System Primitive Neuroectodermal Neoplasm	6
612		CHL022	Childhood Central Nervous System Primitive Neuroectodermal Neoplasm	6
613		ART040	Arthrogryposis Epileptic Seizures Migrational Brain Disorder	5
614		MBS003	Moebius Axonal Neuropathy Hypogonadism	4
615		TMR014	Tumor of Cranial and Spinal Nerves	4
616		ASY002	Asymptomatic Neurosyphilis	42
617	P	SPS133	Spastic Paraplegia 2, X-Linked	40
618		FMR003	Femoral Neuropathy	39
619	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	38
620		BRN036	Brain Stem Infarction	37
621	c	ADL054	Adult Brain Stem Glioma	36
622		BRK002	Birk-Barel Syndrome	35
623	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
624		SCH074	Schuurs-Hoeijmakers Syndrome	34
625		TBS001	Tabes Dorsalis	34
626	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	32
627		MNT192	Mental Retardation, X-Linked, Syndromic, Hedera Type	31
628	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	30
629	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	29
630	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	29
631	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	28
632	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	27
633	c	MNT157	Mental Retardation, Autosomal Dominant 18	25
634	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	24
635	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	24
636	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	24
637	c	MNT273	Mental Retardation, Autosomal Dominant 44	23
638		CRT082	Cortical Dysplasia, Complex, with Other Brain Malformations 8	23
639		MGL011	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation	22
640	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	22
641		TRT002	Tertiary Neurosyphilis	21
642		KHR001	Kahrizi Syndrome	21
643	c	GLY108	Glycosylphosphatidylinositol Biosynthesis Defect 18	20
644	P	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	20
645	c	SPS062	Spastic Paraplegia 34, X-Linked	20
646	c	CRB141	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4	19
647	P	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	19
648		BRN011	Brain Stem Astrocytic Neoplasm	18
649	c	NRB014	Neuroblastoma 3	17
650		NRD051	Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness	16
651		LCL011	Localized Hypertrophic Neuropathy	15
652		CHL055	Childhood Germ Cell Brain Tumor	8
653		STR067	Stroke, Ischemic	84
654	P	MNN013	Meningitis	71
655	P	TRC102	Trichothiodystrophy 1, Photosensitive	59
656		BRN071	Brain Injury	54
657		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
658		CNT025	Central Pontine Myelinolysis	48
659	P	CHR342	Chiari Malformation	46
660		NRN008	Neuronal Intranuclear Inclusion Disease	45
661		HLS003	Helsmoortel-Van Der Aa Syndrome	41
662	c	CFF009	Coffin-Siris Syndrome 4	40
663	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	38
664	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	38
665	P	MYC078	Myoclonus and Ataxia	37
666	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	37
667	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	37
668		MLG041	Malignant Triton Tumor	35
669	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	35
670		CRN034	Cranial Nerve Neoplasm	35
671	c	CHR091	Chronic Meningitis	33
672		SPN185	Spinal Cord Infarction	33
673	c	MCR329	Microcephaly, Autosomal Dominant	32
674	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
675		TMT003	Temtamy Syndrome	30
676	c	CFF007	Coffin-Siris Syndrome 2	29
677	c	MNT185	Mental Retardation, Autosomal Dominant 7	29
678	P	SPN042	Spinal Cord Ependymoma	28
679	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	28
680		MDR004	Madras Motor Neuron Disease	28
681	c	MNT246	Mental Retardation, Autosomal Dominant 38	27
682	c	MNT212	Mental Retardation, Autosomal Dominant 26	27
683	c	MNT241	Mental Retardation, Autosomal Dominant 32	26
684	c	MNT219	Mental Retardation, Autosomal Dominant 30	26
685	P	MNT298	Mental Retardation, X-Linked, Syndromic, 35	25
686	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	25
687	c	MNT322	Mental Retardation, Autosomal Dominant 27	25
688	c	MNT214	Mental Retardation, Autosomal Dominant 24	25
689	c	MNT325	Mental Retardation, Autosomal Recessive 61	24
690	c	MNT222	Mental Retardation, Autosomal Dominant 29	24
691		ENC047	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum	24
692		CLN039	Cln4 Disease	24
693	c	MNT150	Mental Retardation, Autosomal Recessive 15	23
694	c	MNT239	Mental Retardation, Autosomal Dominant 35	23
695	c	MNT238	Mental Retardation, Autosomal Dominant 34	23
696	c	MNT226	Mental Retardation, Autosomal Dominant 31	23
697	c	MNT272	Mental Retardation, Autosomal Dominant 41	23
698	c	MCR269	Microcephaly 15, Primary, Autosomal Recessive	23
699	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	23
700	c	MNT184	Mental Retardation, Autosomal Dominant 11	23
701	c	MNT321	Mental Retardation, Autosomal Recessive 37	23
702	c	MNT186	Mental Retardation, Autosomal Dominant 10	23
703	c	MNT324	Mental Retardation, Autosomal Dominant 49	22
704		PRM183	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	22
705	c	MNT211	Mental Retardation, Autosomal Dominant 23	22
706	c	MNT179	Mental Retardation, Autosomal Dominant 21	22
707	c	MNT245	Mental Retardation, Autosomal Dominant 36	22
708	c	HYP580	Hyperphosphatasia with Mental Retardation Syndrome 4	22
709	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	21
710	c	MNT207	Mental Retardation, X-Linked, Syndromic 32	21
711		OVR005	Ovarian Large-Cell Neuroendocrine Carcinoma	21
712	c	MNT240	Mental Retardation, Autosomal Dominant 33	21
713	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	21
714		MNT058	Mental Retardation, X-Linked, Syndromic, Turner Type	20
715		NRD040	Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter	20
716		EPL170	Epilepsy-Aphasia Spectrum	20
717	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	20
718	c	MNT154	Mental Retardation, Autosomal Recessive 14	20
719		NRD026	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies	20
720	c	MNT151	Mental Retardation, Autosomal Recessive 18	19
721	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	18
722	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	18
723		BKR002	Baker-Gordon Syndrome	18
724		MNT057	Mental Retardation, X-Linked, Syndromic, Raymond Type	18
725	P	BRN030	Brain Ependymoma	17
726		KRK002	Karak Syndrome	17
727	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	16
728		PNC065	Pinched Nerve	16
729	c	MCR368	Microcephaly 24, Primary, Autosomal Recessive	16
730	c	GSR001	Gosr2-Related Progressive Myoclonus Ataxia	15
731	c	CHR161	Chiari Malformation Type 3	11
732	c	MCR372	Microcephaly 25, Primary, Autosomal Recessive	10
733		SPN003	Spinal Cord Dermoid Cyst	9
734	c	CHR162	Chiari Malformation Type 4	7
735		ICH006	Ichthyosis Alopecia Eclabion Ectropion Mental Retardation	6
736		PLT009	Pili Torti Developmental Delay Neurological Abnormalities	6
737		BRN069	Brain and Spinal Tumors	5
738		GTD002	Gatad2b-Associated Neurodevelopmental Disorder	5
739	P	EPL164	Epilepsy	73
740		CRB037	Cerebral Palsy	71
741	P	MCR115	Microvascular Complications of Diabetes 5	71
742	c	MCR129	Microvascular Complications of Diabetes 1	66
743	c	MCR113	Microvascular Complications of Diabetes 3	58
744	c	EPS042	Episodic Ataxia, Type 1	58
745	c	EPS035	Episodic Ataxia, Type 2	57
746		THR013	Thoracic Outlet Syndrome	57
747	P	TRN034	Transverse Myelitis	54
748		PRN023	Prion Disease	53
749		WRN002	Wernicke-Korsakoff Syndrome	53
750	c	GM2005	Gm2-Gangliosidosis, Ab Variant	49
751	P	LSS002	Lissencephaly	49
752	c	GM2006	Gm2 Gangliosidosis	49
753	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	49
754		PPL058	Papilloma of Choroid Plexus	48
755		ISC002	Ischemic Optic Neuropathy	48
756	P	GNG009	Gangliosidosis	47
757		CRB150	Cerebral Creatine Deficiency Syndrome 2	46
758	c	MCR120	Microvascular Complications of Diabetes 7	46
759	c	ACT159	Acute Transverse Myelitis	45
760	P	PRV002	Periventricular Nodular Heterotopia	45
761	c	BNG023	Benign Familial Infantile Epilepsy	44
762	c	MCR133	Microvascular Complications of Diabetes 4	43
763	c	MCR130	Microvascular Complications of Diabetes 6	43
764	c	MCR112	Microvascular Complications of Diabetes 2	42
765		CRB033	Cerebral Degeneration	42
766		CDQ001	Cauda Equina Syndrome	40
767		PLX002	Plexiform Neurofibroma	40
768	c	EPS017	Episodic Ataxia, Type 6	36
769		DYS006	Dysembryoplastic Neuroepithelial Tumor	36
770		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	36
771	c	EPS037	Episodic Ataxia, Type 4	31
772	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	31
773	c	ATS204	Autosomal Recessive Non-Syndromic Intellectual Disability	31
774	c	EPS015	Episodic Ataxia, Type 7	30
775		SML004	Small Intestine Neuroendocrine Neoplasm	29
776		HNM002	Hinman Syndrome	29
777		HYP241	Hypermethioninemia Due to Adenosine Kinase Deficiency	29
778	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	29
779		MLS013	Miles-Carpenter Syndrome	28
780		MTR031	Motor Neuro-Ophthalmic Disorders	27
781	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	26
782		NRP048	Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration	26
783		BRK011	Brooks-Wisniewski-Brown Syndrome	25
784	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	24
785	P	MNT198	Mental Retardation, X-Linked 98	23
786	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	23
787	c	EPS014	Episodic Ataxia, Type 3	23
788		TRG004	Trigeminal Nerve Neoplasm	23
789	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	23
790	c	MNT191	Mental Retardation, X-Linked, Syndromic 17	22
791		OLF004	Olfactory Nerve Neoplasm	22
792	c	EPS033	Episodic Ataxia, Type 8	21
793		MNT266	Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects	20
794	c	EPS034	Episodic Ataxia, Type 5	20
795		MNT320	Mental Retardation, Autosomal Dominant 6, with or Without Seizures	20
796	c	NRD041	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive	20
797		MNT201	Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	20
798		MNT283	Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly	18
799		MCR333	Microcephaly, Seizures, Spasticity, and Brain Calcifications	18
800		CNT029	Central Nervous System Endodermal Sinus Tumor	18
801		ACT231	Acute Flaccid Myelitis	18
802	c	VSC054	Visceral Neuropathy, Familial, Autosomal Recessive	17
803		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	17
804		MNT257	Mental Retardation, X-Linked, with Craniofacial Dysmorphism	17
805		FLL034	Fallot Complex with Severe Mental and Growth Retardation	17
806		DPB002	Deep Brain Stimulation for Movement Disorders	16
807		LRY013	Laryngeal Neuroendocrine Tumor	16
808		ABD008	Abidi X-Linked Mental Retardation Syndrome	16
809		CHL003	Childhood Spinal Cord Tumor	16
810		MTR078	Motor Neuropathy, Peripheral, with Dysautonomia	16
811		BNP001	Bone Peripheral Neuroepithelioma	16
812		CRN293	Craniosynostosis-Mental Retardation-Clefting Syndrome	15
813		NRD042	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	14
814		IDP022	Idiopathic Spinal Cord Herniation	13
815	c	PRV013	Periventricular Nodular Heterotopia 3	12
816	c	VSC056	Visceral Neuropathy, Familial, Autosomal Dominant	12
817		FCL002	Facial Nerve Neoplasm	11
818		SPN007	Spinal Cord Oligodendroglioma	11
819	c	ATS388	Autosomal Dominant Non-Syndromic Intellectual Disability 6	11
820		SYN081	Syndromic X-Linked Intellectual Disability Abidi Type	11
821		BRN025	Brainstem Intraparenchymal Clear Cell Meningioma	10
822		XLN023	X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club	10
823		CNG458	Congenital Abducens Nerve Palsy	10
824		VGS002	Vagus Nerve Neoplasm	9
825		SYN090	Syndromic X-Linked Intellectual Disability Turner Type	9
826	c	GM2001	Gm2 Gangliosidosis, 0 Variant	9
827		ADL035	Adult Spinal Cord Glioblastoma Multiforme	9
828		ADL021	Adult Brainstem Gliosarcoma	9
829		ANL010	Anal Neuroendocrine Tumor	8
830		PRM283	Primitive Neuroectodermal Tumor of the Corpus Uteri	7
831		TRC009	Trochlear Nerve Neoplasm	7
832		CRN032	Cranial Nerve Iii Tumor	7
833		ADL003	Adult Brainstem Mixed Glioma	7
834		BLT005	Bilateral Meningioma of Optic Nerve	7
835		CLS051	Classic Neuroendocrine Tumor of Appendix	7
836		MLG027	Malignant Oculomotor Nerve Tumor	7
837	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	7
838		SPN001	Spinal Accessory Nerve Neoplasm	6
839		ABD001	Abducens Nerve Neoplasm	6
840		HYP079	Hypoglossal Nerve Neoplasm	6
841		ALZ051	Alzheimer Disease Without Neurofibrillary Tangles	6
842		GLS002	Glossopharyngeal Nerve Neoplasm	6
843		CHL005	Childhood Mediastinal Neurogenic Tumor	6
844	c	SCN040	Secondary Acute Transverse Myelitis	6
845	c	DPD002	Depdc5-Related Epilepsy	5
846		ARN002	Arnold Stickler Bourne Syndrome	5
847		VSC023	Vasculitis Syndromes of the Central and Peripheral Nervous Systems	5
848		THM007	Thumb Stiff Brachydactyly Mental Retardation	4
849	P	BNG037	Benign Angiitis of the Central Nervous System	4
850		NRL012	Neurological Manifestations of Pompe Disease	4
851	c	KCN020	Kcnt1-Related Epilepsy	4
852		PST045	Post-Streptococcal Neurologic Disorders	3
853	P	ANG001	Angelman Syndrome	65
854	P	GLM040	Glioma Susceptibility 1	64
855		TRG002	Trigeminal Neuralgia	60
856		BRN004	Brain Edema	59
857		SPN020	Spondylosis	52
858		PRR007	Perry Syndrome	51
859	P	RSM001	Rasmussen Encephalitis	49
860	P	PRN026	Porencephaly	49
861		MNN028	Mononeuropathy of the Median Nerve, Mild	46
862		OPT007	Optic Nerve Glioma	45
863		IFP001	Ifap Syndrome with or Without Bresheck Syndrome	41
864	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	40
865		BRC011	Brachial Plexus Neuropathy	40
866		NRM006	Neuromuscular Junction Disease	38
867	P	SPS008	Spastic Ataxia	37
868	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
869	c	SPN247	Spinocerebellar Ataxia Type 19/22	37
870	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	36
871	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
872	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	34
873	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	34
874		ENC038	Encephalopathy, Progressive, with or Without Lipodystrophy	33
875	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	33
876		NRT011	Neurotrophic Keratopathy	32
877		PDN001	Pudendal Neuralgia	32
878	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	32
879	c	FML084	Familial Porencephaly	32
880		ULN001	Ulnar Neuropathy	30
881		GRN004	Granulomatous Amebic Encephalitis	30
882	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
883	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	28
884	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	28
885	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	27
886	c	MNT248	Mental Retardation, X-Linked 102	27
887		PRN008	Peroneal Nerve Paralysis	27
888	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	26
889	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	26
890	c	HYP697	Hyperphosphatasia with Mental Retardation Syndrome 6	25
891	P	DST101	Distal Hereditary Motor Neuropathies	25
892	c	MNT158	Mental Retardation, Autosomal Dominant 22	25
893		MNT290	Mental Retardation, X-Linked 99, Syndromic, Female-Restricted	25
894		SPR032	Superficial Siderosis of the Central Nervous System	25
895		HRT037	Heart and Brain Malformation Syndrome	25
896	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	24
897	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	24
898	c	MNT183	Mental Retardation, Autosomal Recessive 36	24
899	P	CNT044	Central Nervous System Primitive Neuroectodermal Neoplasm	24
900	c	RSM003	Rasmussen Subacute Encephalitis	23
901		NRF016	Neurofibromatosis, Familial Spinal	23
902		ANT066	Anterior Cutaneous Nerve Entrapment Syndrome	23
903	c	SPN102	Spinocerebellar Ataxia 30	23
904		TNN015	Tonne-Kalscheuer Syndrome	23
905	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
906	c	HYP442	Hyperphosphatasia with Mental Retardation Syndrome 2	22
907	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	22
908		NRD023	Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language	21
909		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	21
910	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	21
911		ENC059	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity	21
912	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	20
913		CHR655	Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive	20
914	c	SPN107	Spinocerebellar Ataxia 9	20
915	c	GLM025	Glioma Susceptibility 2	19
916	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	19
917	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	19
918	c	MNT224	Mental Retardation, X-Linked 101	19
919	P	ALP076	Alopecia-Mental Retardation Syndrome 1	18
920		BCK018	Bickerstaff Brainstem Encephalitis	18
921	c	MNT218	Mental Retardation, X-Linked 99	18
922	c	MNT294	Mental Retardation, X-Linked 106	18
923	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	17
924	c	MNT223	Mental Retardation, X-Linked 100	17
925	c	GLM043	Glioma Susceptibility 9	17
926	c	GLM047	Glioma Susceptibility 3	17
927		PCH018	Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts	16
928		NRD049	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures	16
929	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	15
930	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	14
931		SPN004	Spinal Cord Lipoma	14
932	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	14
933	c	ACQ029	Acquired Porencephaly	13
934		ATN001	Autonomic Peripheral Neuropathy	12
935	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	11
936	c	GRD008	Grid2-Related Spinocerebellar Ataxia	11
937	c	SPS214	Spastic Ataxia 4	10
938	c	SPS171	Spastic Ataxia 5	10
939		CHL017	Childhood Brain Meningioma	9
940	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	9
941	c	SPS163	Spastic Ataxia 3	9
942	c	SPS162	Spastic Ataxia 1	9
943	c	GLM019	Glioma Susceptibility 4	9
944	c	GLM021	Glioma Susceptibility 6	9
945	c	GLM022	Glioma Susceptibility 8	9
946	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	8
947	c	SPS170	Spastic Ataxia 2	8
948	c	GLM020	Glioma Susceptibility 5	8
949	c	GLM038	Glioma Susceptibility 7	8
950		NRD061	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities	8
951	c	SPS172	Spastic Ataxia 7	8
952	c	SPS229	Spastic Ataxia 8	8
953		BRN023	Brain Stem Ependymoma	7
954	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	7
955	c	ANG058	Angelman Syndrome Due to a Point Mutation	6
956		MDS014	Mediastinum Neuroblastoma	6
957		MTR033	Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita	3
958		ART005	Arteriovenous Malformation	66
959	P	ENC018	Encephalopathy	65
960	P	NRP001	Neuropathy	63
961		TRN015	Transient Cerebral Ischemia	59
962		GLM004	Gliomatosis Cerebri	58
963	P	RHB008	Rhabdoid Tumor Predisposition Syndrome 1	57
964		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	56
965		GNG005	Gangliocytoma	52
966	P	SYR001	Syringomyelia	51
967	P	AST007	Astrocytoma	51
968	c	PRM092	Primary Lateral Sclerosis, Adult, 1	47
969	c	MLG068	Malignant Glioma	47
970		CNT046	Central Nervous System Vasculitis	47
971		BRC010	Brachial Plexus Lesion	46
972		ATN004	Autonomic Neuropathy	46
973		BRN032	Brain Glioma	45
974		MDL002	Medulloepithelioma	45
975		BRN080	Brain Ischemia	43
976	P	HYP265	Hypotonia	43
977		EST003	Eastern Equine Encephalitis	39
978	c	PSD106	Pseudo-Torch Syndrome 1	38
979		CNT041	Central Nervous System Melanocytic Neoplasm	36
980		TRG003	Trigeminal Nerve Disease	35
981		VST001	Vestibular Neuronitis	35
982	P	SCH017	Schindler Disease	35
983		CHR543	Chromosome 2q37 Deletion Syndrome	35
984		BRN031	Brain Germinoma	34
985		GLS004	Glossopharyngeal Neuralgia	34
986	P	ATN003	Autonomic Nervous System Neoplasm	34
987	c	CHR670	Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	33
988	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	32
989		PLY158	Polyglucosan Body Neuropathy, Adult Form	31
990		PLM039	Pulmonary Neuroendocrine Tumor	31
991		MND023	Mend Syndrome	28
992		BRN021	Brain Sarcoma	28
993		CNT109	Central Nervous System Benign Neoplasm	26
994		BRC097	Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation	26
995		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
996		BRN008	Brain Compression	25
997	c	MNT145	Mental Retardation, Autosomal Recessive 5	25
998	c	MNT280	Mental Retardation, Autosomal Dominant 43	25
999		BRS005	Breast Neuroendocrine Neoplasm	25
1000	c	MNT166	Mental Retardation, Autosomal Recessive 39	25
1001	c	MNT213	Mental Retardation, Autosomal Recessive 40	24
1002		OHD003	Ohdo Syndrome, X-Linked	24
1003	c	MNT328	Mental Retardation, Autosomal Dominant 52	24
1004		ALC002	Alcohol-Related Neurodevelopmental Disorder	24
1005	c	MNT244	Mental Retardation, Autosomal Recessive 49	24
1006	c	MNT242	Mental Retardation, Autosomal Dominant 40	23
1007	c	MNT216	Mental Retardation, Autosomal Recessive 41	23
1008	c	MNT176	Mental Retardation, Autosomal Recessive 38	23
1009	c	MNT221	Mental Retardation, Autosomal Recessive 44	22
1010	c	MNT177	Mental Retardation, Autosomal Recessive 27	22
1011	P	TRC034	Torch Syndrome	22
1012		AMM001	Amme Complex	22
1013	c	MNT323	Mental Retardation, Autosomal Dominant 48	21
1014	c	MNT227	Mental Retardation, Autosomal Recessive 46	21
1015	c	SCN048	Secondary Syringomyelia	21
1016		NRD029	Neurodevelopmental Disorder with Involuntary Movements	21
1017	c	JVN001	Juvenile Astrocytoma	21
1018	P	ENC046	Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy	21
1019		HYD065	Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies	21
1020	c	MNT234	Mental Retardation, Autosomal Recessive 48	21
1021	c	MNT220	Mental Retardation, Autosomal Recessive 45	20
1022	c	MNT286	Mental Retardation, Autosomal Dominant 45	20
1023	c	MNT329	Mental Retardation, Autosomal Dominant 53	20
1024	c	MNT279	Mental Retardation, Autosomal Dominant 47	20
1025	c	MNT330	Mental Retardation, Autosomal Dominant 54	20
1026	c	MNT327	Mental Retardation, Autosomal Dominant 51	20
1027	c	MNT215	Mental Retardation, Autosomal Recessive 43	20
1028	c	MNT225	Mental Retardation, Autosomal Recessive 47	20
1029	c	MNT326	Mental Retardation, Autosomal Dominant 50	20
1030	c	MNT332	Mental Retardation, Autosomal Dominant 56	20
1031	c	MNT278	Mental Retardation, Autosomal Dominant 46	19
1032	P	HYP830	Hypomagnesemia, Seizures, and Mental Retardation 1	19
1033		LSN001	Lesion of Sciatic Nerve	19
1034	c	MNT264	Mental Retardation, Autosomal Recessive 52	18
1035	c	MNT243	Mental Retardation, Autosomal Recessive 50	18
1036		ART137	Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect	18
1037		BRN007	Brain Oligodendroglioma	17
1038	c	MNT195	Mental Retardation, X-Linked 96	15
1039		SCH001	Schwannoma of Twelfth Cranial Nerve	15
1040		NRD058	Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures	15
1041		NRD038	Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	15
1042		MNT107	Mental Retardation, Fra12a Type	14
1043	c	PNT052	Pontocerebellar Hypoplasia, Type 12	14
1044		FLP002	Floppy Infant Syndrome	13
1045		CRT087	Cortical Dysplasia, Complex, with Other Brain Malformations 9	13
1046		NRP058	Neuropathy, Hereditary Sensory, X-Linked	13
1047		NRP057	Neuropathy, Hereditary Sensory, Atypical	12
1048	c	PRM168	Primary Syringomyelia	11
1049	c	FML255	Familial Syringomyelia	10
1050	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	10
1051		CHL051	Childhood Brain Germinoma	9
1052	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	8
1053		CNT013	Central Nervous System Leiomyoma	8
1054		BRN020	Brain Stem Angioblastoma	8
1055		CLP007	Clpb Deficiency	8
1056		SCR027	Sacral Nerve Root Cysts	7
1057		HRD105	Hereditary Sensorimotor Neuropathy with Hyperelastic Skin	5
1058		NRL011	Neurological Consequences of Cytomegalovirus Infection	4
1059		ANX010	Anxiety	73
1060	P	ENC004	Encephalitis	66
1061	P	SZR006	Seizure Disorder	61
1062	P	SYP003	Syphilis	58
1063		HMN009	Hemangioblastoma	57
1064	P	TRM003	Tremor	56
1065	P	GLM045	Glioma	56
1066		RRR001	Rere-Related Disorders	55
1067	P	SLL003	Salla Disease	53
1068		NRM004	Neuroma	52
1069		HYD061	Hydrocephalus, Normal-Pressure	52
1070	c	RBN021	Rubinstein-Taybi Syndrome 1	48
1071		NNT033	Neonatal Hypoxic and Ischemic Brain Injury	48
1072		CRB090	Cerebral Hypoxia	47
1073		DBT002	Diabetic Autonomic Neuropathy	46
1074		ARC002	Arachnoiditis	46
1075		HYP134	Hypoparathyroidism-Retardation-Dysmorphism Syndrome	44
1076	c	PRM022	Primary Syphilis	44
1077		MNN017	Mononeuropathy	43
1078	P	HMF004	Hemifacial Spasm	43
1079	c	SPN265	Spinocerebellar Ataxia 36	43
1080		STL001	St. Louis Encephalitis	41
1081		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	41
1082	c	CNG033	Congenital Syphilis	41
1083		CLF037	Cleft Lip/palate-Ectodermal Dysplasia Syndrome	41
1084		CRB148	Cerebral Creatine Deficiency Syndrome 3	40
1085	c	CNG031	Congenital Nervous System Abnormality	40
1086		OHD004	Ohdo Syndrome	40
1087	c	SCN006	Secondary Syphilis	39
1088		HYP264	Hypertonia	37
1089		NRX001	Neuroaxonal Dystrophy	35
1090		PRM205	Primary Hepatic Neuroendocrine Carcinoma	34
1091		EPD005	Epidural Abscess	34
1092		SPN018	Spinal Cord Astrocytoma	34
1093		PRN016	Peroneal Neuropathy	34
1094		FST001	Foster-Kennedy Syndrome	33
1095	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	32
1096		NRG001	Neurogenic Bowel	32
1097		FCL011	Facial Nerve Disease	31
1098		ISC001	Ischemic Neuropathy	30
1099		CKS001	Ck Syndrome	30
1100	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
1101	c	LSS010	Lissencephaly 4	29
1102	c	TRM024	Tremor, Hereditary Essential, 1	29
1103		EPT008	Epithelioid Malignant Peripheral Nerve Sheath Tumor	29
1104		NRN045	Neuroendocrine Neoplasm of Appendix	29
1105	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
1106		NRS001	Neuroschistosomiasis	28
1107		LKN024	Leukoencephalopathy, Brain Calcifications, and Cysts	27
1108	c	SNS009	Sensory Neuropathy Type 1	27
1109	c	MLT009	Multiple Cranial Nerve Palsy	26
1110		ALP089	Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality	26
1111	c	LTC001	Late Congenital Syphilis	25
1112		EPL149	Epilepsy, Hearing Loss, and Mental Retardation Syndrome	24
1113		TBL007	Tibial Neuropathy	23
1114		ILL008	Ileal Neuroendocrine Tumor	22
1115		MLP006	Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type	22
1116	c	CHR682	Chronic Bilirubin Encephalopathy	22
1117	c	HMF011	Hemifacial Spasm, Familial	21
1118		RDL014	Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation	21
1119	c	ERL002	Early Congenital Syphilis	21
1120		CRB198	Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome	21
1121		HLL013	Hall-Riggs Mental Retardation Syndrome	21
1122		ESP009	Esophageal Neuroendocrine Tumor	21
1123	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	21
1124		PLY113	Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag	21
1125	c	CHR115	Charcot-Marie-Tooth Neuropathy Type 2a	20
1126		BLP044	Blepharophimosis with Facial and Genital Anomalies and Mental Retardation	20
1127		GMS002	Gms Syndrome	19
1128		MYC075	Myoclonus, Intractable, Neonatal	19
1129	P	BRN140	Brain Small Vessel Disease 2	19
1130		SPN424	Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits	19
1131	c	TRM020	Tremor, Hereditary Essential, 2	18
1132	c	TRM022	Tremor, Hereditary Essential, 5	18
1133		YLK002	Yolk Sac Tumor of Central Nervous System	18
1134		INT022	Intracranial Primitive Neuroectodermal Tumor	18
1135	c	INF044	Infantile Axonal Neuropathy	18
1136	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	18
1137		PBL004	Piebald Trait with Neurologic Defects	17
1138		LMB066	Limb Defects, Distal Transverse, with Mental Retardation and Spasticity	17
1139		ULN002	Ulnar Nerve Lesion	17
1140	P	ACT241	Acute Bilirubin Encephalopathy	17
1141		OVR004	Ovary Neuroendocrine Neoplasm	17
1142		WLF012	Wolff Mental Retardation Syndrome	17
1143	P	NNP004	Nonphotosensitive Trichothiodystrophy	17
1144	c	TRM017	Tremor, Hereditary Essential, 4	16
1145		PTR031	Pterygium Colli and Mental Retardation with Facial and Digital Anomalies	16
1146		BRN027	Brain Angioma	16
1147		MNN005	Meningovascular Neurosyphilis	16
1148		NRP006	Neuropathy, Congenital, with Arthrogryposis Multiplex	16
1149		ULN022	Ulnar Hypoplasia with Mental Retardation	16
1150	c	MNT204	Mental Retardation, X-Linked 23	16
1151	c	MNT202	Mental Retardation, X-Linked 53	16
1152		VSC048	Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	16
1153		PRS131	Prostate Cancer/brain Cancer Susceptibility	15
1154		SPN025	Spinal Cord Melanoma	15
1155		NRC007	Neuroectodermal Endocrine Syndrome	15
1156		SPN347	Spondyloepiphyseal Dysplasia Tarda with Mental Retardation	15
1157	c	CHR120	Charcot-Marie-Tooth Neuropathy X Type 1	15
1158		HYP687	Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy	15
1159		SCH022	Schimke X-Linked Mental Retardation Syndrome	15
1160		HYP183	Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features	15
1161		PRP102	Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development	15
1162		CNG457	Congenital Oculomotor Nerve Palsy	15
1163	P	MNT312	Mental Health Wellness 1	15
1164		GLS008	Glossopharyngeal Nerve Disease	15
1165		SPS218	Spastic Diplegia and Mental Retardation	14
1166		NRP047	Neuropathy, Hereditary Thermosensitive	14
1167		RNL088	Renal Cell Carcinoma Associated with Neuroblastoma	14
1168	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	14
1169		PRS017	Prostate Neuroendocrine Neoplasm	14
1170		OCL024	Ocular Neuromyotonia	14
1171		SPR039	Supratentorial Primitive Neuroectodermal Tumors, Childhood	14
1172		NRD059	Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy	13
1173		EFV001	Efavirenz, Poor Metabolism of	13
1174	c	SZR011	Seizures, Benign Familial Infantile, 4	12
1175		CNG362	Congenital Trochlear Nerve Palsy	12
1176		SPN024	Spinal Cord Sarcoma	12
1177		NRH002	Neurohypophysis Granular Cell Tumor	12
1178		HRD103	Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum	11
1179	c	NRB012	Neuroblastoma 5	11
1180	c	TRM016	Tremor, Hereditary Essential, 3	11
1181	P	FTL014	Fetal Brain Disruption Sequence	11
1182		CLN014	Colon Neuroendocrine Neoplasm	11
1183		MNT311	Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration	11
1184		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	11
1185	c	PMP012	Pmp2-Related Charcot-Marie-Tooth Disease Type 1	11
1186		ICH027	Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin	11
1187		NRD060	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia	11
1188	P	NRP005	Neuropathy Sensory Spastic Paraplegia	10
1189	c	DNM001	Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy	10
1190		KCN019	Kcnk9 Imprinting Syndrome	10
1191		CRB010	Cerebellopontine Angle Primitive Neuroectodermal	10
1192		SPN002	Spinal Cord Intramedullary Teratoma	10
1193		PRP096	Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain	10
1194		CNT023	Central Nervous System Hemangioma	10
1195	c	NRB013	Neuroblastoma 6	10
1196	c	NRB011	Neuroblastoma 4	10
1197	c	NRB016	Neuroblastoma 7	10
1198	c	INT094	Intermediate Severe Salla Disease	10
1199	c	ATS389	Autosomal Dominant Non-Syndromic Intellectual Disability 8	9
1200		NRF005	Neurofibroma of Gallbladder	9
1201	c	SCN009	Scn1a-Related Seizure Disorders	9
1202		SYN093	Syndromic X-Linked Intellectual Disability Raymond Type	9
1203	c	ATS417	Autosomal Dominant Non-Syndromic Intellectual Disability 19	9
1204		CLL024	Colloid Cysts of Third Ventricle	8
1205		ATM073	Autoimmune-Related Retinopathy and Optic Neuropathy	8
1206		NRF001	Neurofibroma of Spinal Cord	8
1207		NRF006	Neurofibroma of the Heart	8
1208		SFT001	Soft Tissue Peripheral Neuroepithelioma	8
1209		MLG125	Malignant Mediastinal Neurogenic Neoplasm	8
1210	c	SVR017	Severe Infantile Axonal Neuropathy	8
1211		SNL005	Senile Degeneration of Brain	8
1212	P	RBN007	Rubinstein Taybi Like Syndrome	7
1213		MLG057	Malignant Cardiac Peripheral Nerve Sheath Neoplasm	7
1214	c	ADL036	Adult Central Nervous System Germinoma	7
1215	c	MNT313	Mental Health Wellness 2	7
1216		HRD181	Hereditary Neuroendocrine Tumor of Small Intestine	7
1217	P	ADL055	Adult Central Nervous System Teratoma	7
1218		NRN043	Neuroendocrine Neoplasm of Esophagus	7
1219		NSL005	Nasal Cavity Olfactory Neuroblastoma	7
1220		CTS013	Cutis Verticis Gyrata Mental Deficiency	6
1221		NRV001	Nerve Root Neoplasm	6
1222	c	GDP003	Gdap1-Related Hereditary Motor and Sensory Neuropathy	6
1223		INF155	Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	6
1224		ADL004	Adult Brainstem Astrocytoma	6
1225		THR008	Thoracic Spinal Canal and Spinal Cord Meningioma	6
1226		LMB007	Lumbar Spinal Canal and Spinal Cord Meningioma	6
1227		PLN002	Plantar Nerve Lesion	6
1228		MLG015	Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum	6
1229		SCR007	Sacral Spinal Canal and Spinal Cord Meningioma	6
1230	c	MLT014	Multiple Spinal Canal and Spinal Cord Meningioma	6
1231		CHL053	Childhood Brainstem Astrocytoma	6
1232		CRV019	Cervical Spinal Canal and Spinal Cord Meningioma	6
1233		INT252	Intestinal Neuroendocrine Benign Tumor	6
1234		MDS007	Mediastinum Neurofibroma	5
1235		SCM002	Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities	5
1236		PTR009	Pterygium Colli Mental Retardation Digital Anomalies	5
1237		PRG135	Progressive Dementia with Neuroserpin Inclusion Bodies	4
1238		HYP234	Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response	4
1239		DFN009	Deafness Hyperuricemia Neurologic Ataxia	4
1240		PRG136	Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies	4
1241		NRV003	Nervous System Hibernoma	4
1242		CRN091	Craniosynostosis Alopecia Brain Defect	4
1243		CRN100	Craniosynostosis Mental Retardation Heart Defects	3
1244		PRT057	Proteus Like Syndrome Mental Retardation Eye Defect	3
1245		CNG099	Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation	3
1246		LKM007	Leukomelanoderma Mental Redardation Hypotrichosis	3
1247		CRN064	Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation	3
1248		DFN012	Deafness Mesenteric Diverticula of Small Bowel Neuropathy	3
1249		SZR004	Seizures Mental Retardation Hair Dysplasia	3
1250		DFN018	Deafness Peripheral Neuropathy Arterial Disease	3
1251		OST060	Osteosclerosis Abnormalities of Nervous System and Meninges	3
1252		EPL007	Epilepsy Mental Deterioration Finnish Type	3
1253		DFN033	Deafness, Neurosensory Nonsyndromic Recessive, Dfn	3
1254		HRD059	Hereditary Peripheral Nervous Disorder	2
1255		FCL024	Focal or Multifocal Malformations in Neuronal Migration	2
1256		RTN074	Retinopathy Aplastic Anemia Neurological Abnormalities	2
1257		CHR279	Chronic Demyelinizing Neuropathy with Igm Monoclonal	2
1258		SPN084	Spinal Bulbar Motor Neuropathy	2
1259		SPS043	Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation	2
1260	P	ATX030	Ataxia-Telangiectasia	83
1261	P	PRK057	Parkinson Disease, Late-Onset	77
1262	P	ATT013	Attention Deficit-Hyperactivity Disorder	67
1263		MVM001	Movement Disease	67
1264	P	CRB048	Cerebral Cavernous Malformations	65
1265		PST028	Post-Traumatic Stress Disorder	63
1266		HMR039	Hemorrhage, Intracerebral	62
1267		APH002	Aphasia	60
1268		SLP005	Sleep Disorder	60
1269		RDC002	Radiculopathy	54
1270		CRB027	Cerebellar Disease	53
1271		LPD009	Lipid Storage Disease	53
1272	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	53
1273	P	MGL013	Megalencephaly	50
1274		CRB045	Cerebellar Hypoplasia	50
1275	c	CRB191	Cerebral Cavernous Malformations 2	49
1276		WRN003	Wernicke Encephalopathy	49
1277		PRP056	Porphyria, Acute Hepatic	47
1278	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
1279	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	45
1280	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	45
1281	P	PNT019	Pontocerebellar Hypoplasia	43
1282		DND001	Dandy-Walker Syndrome	42
1283	c	ERL056	Early-Onset Parkinson's Disease	40
1284		MTH074	Methionine Adenosyltransferase I/iii Deficiency	40
1285	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	38
1286	P	2HY001	2-Hydroxyglutaric Aciduria	38
1287	c	PRK090	Parkinson Disease 3, Autosomal Dominant	37
1288	P	CNT036	Central Nervous System Germ Cell Tumor	36
1289	c	CRB094	Cerebral Cavernous Malformations 3	36
1290	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	35
1291	c	PRK025	Parkinson Disease 10	35
1292		ASP024	Asparagine Synthetase Deficiency	35
1293	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
1294		ART110	Arteritic Anterior Ischemic Optic Neuropathy	34
1295	c	HRD173	Hereditary Late-Onset Parkinson Disease	34
1296	P	HYP700	Hypomyelinating Leukodystrophy	31
1297	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
1298	c	PRK071	Parkinson Disease 14, Autosomal Recessive	30
1299	c	HYP716	Hypermanganesemia with Dystonia 1	30
1300		ALC011	Alcoholic Neuropathy	30
1301		NRN002	Neuronitis	29
1302	P	SCH077	Schwannomatosis 1	29
1303		BRN034	Brain Meningioma	29
1304		BLB005	Beaulieu-Boycott-Innes Syndrome	28
1305	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
1306	c	PRK093	Parkinson Disease 8, Autosomal Dominant	28
1307	P	HYP723	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1	27
1308		FZL002	Fazio-Londe Disease	27
1309	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	27
1310		PPL060	Papillary Glioneuronal Tumors	26
1311	c	PRK022	Parkinson Disease 12	26
1312		RDL004	Radial Neuropathy	26
1313	c	LKD030	Leukodystrophy, Hypomyelinating, 17	24
1314	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
1315	c	LKD021	Leukodystrophy, Hypomyelinating, 11	23
1316	c	PRK091	Parkinson Disease 4, Autosomal Dominant	23
1317	c	SPN420	Spinocerebellar Ataxia 46	23
1318	c	JVN058	Juvenile-Onset Parkinson's Disease	22
1319	c	PRK008	Parkinson Disease Type 9	22
1320	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
1321		MNT269	Mental Retardation, X-Linked, Syndromic, Bain Type	22
1322	c	SPN427	Spinocerebellar Ataxia 48	22
1323	P	HYP821	Hypermanganesemia with Dystonia	21
1324		ACT181	Acute Motor Axonal Neuropathy	21
1325	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	21
1326		HRL006	Harel-Yoon Syndrome	21
1327	c	MNT275	Mental Retardation, Autosomal Recessive 60	20
1328		FGS004	Fg Syndrome 4	20
1329		NRD037	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies	19
1330		OKR001	Okur-Chung Neurodevelopmental Syndrome	19
1331		FXL001	Foix-Alajouanine Syndrome	19
1332	c	MNT267	Mental Retardation, X-Linked 104	19
1333	c	MNT334	Mental Retardation, Autosomal Dominant 57	19
1334	c	SCH088	Schwannomatosis 2	18
1335	c	LRR001	Lrrk2-Related Parkinson Disease	18
1336	c	MNT289	Mental Retardation, X-Linked 103	18
1337		NRD046	Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities	17
1338		CRV067	Cervical Neuroblastoma	17
1339		NRD044	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features	17
1340		NRD027	Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset	17
1341		OSL002	O'sullivan-Mcleod Syndrome	17
1342		CLP002	Colpocephaly	17
1343	c	PRK058	Parkinson Disease 16	17
1344	c	MNT333	Mental Retardation, X-Linked 107	16
1345	c	PRK098	Parkinson Disease 5, Autosomal Dominant	16
1346		INT311	Intellectual Developmental Disorder with Neuropsychiatric Features	16
1347		SBN004	Sabinas Brittle Hair Syndrome	16
1348	c	MNT274	Mental Retardation, X-Linked 105	15
1349	c	ATT020	Attention Deficit-Hyperactivity Disorder 2	15
1350		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	15
1351		CHL046	Childhood Central Nervous System Mixed Germ Cell Tumor	15
1352		MNT306	Mental Retardation, X-Linked, Syndromic, Houge Type	14
1353	c	ENC066	Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2	14
1354		LSS040	Lissencephaly 9 with Complex Brainstem Malformation	13
1355	c	MGL035	Megalencephaly, Autosomal Dominant	13
1356	c	BRN141	Brain Small Vessel Disease 3	12
1357	c	ATT021	Attention Deficit-Hyperactivity Disorder 3	10
1358	c	ATT022	Attention Deficit-Hyperactivity Disorder 4	10
1359		SQL002	Squalene Synthase Deficiency	10
1360	c	VPS003	Vps35-Related Parkinson Disease	10
1361	c	ATT019	Attention Deficit-Hyperactivity Disorder 1	10
1362	c	ADL029	Adult Central Nervous System Mixed Germ Cell Tumor	7
1363	c	MCP050	Mucopolysaccharidosis, Type Ii	67
1364		CLF027	Cleft Palate, Isolated	66
1365	P	CCK001	Cockayne Syndrome	66
1366		ETN001	Eating Disorder	65
1367	c	MCP049	Mucopolysaccharidosis, Type Vii	65
1368	c	MCP052	Mucopolysaccharidosis, Type Vi	62
1369	P	MTR004	Maturity-Onset Diabetes of the Young	61
1370	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
1371	c	MCP004	Mucopolysaccharidosis Iv	60
1372	P	PLY019	Polyneuropathy	58
1373		ASP003	Aseptic Meningitis	56
1374		SMT006	Somatoform Disorder	55
1375	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	53
1376		LRN003	Learning Disability	53
1377		HDN002	Head Injury	52
1378	c	BNG030	Benign Ependymoma	52
1379		CVR006	Cavernous Hemangioma	52
1380	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	52
1381	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	51
1382	c	CCK008	Cockayne Syndrome a	51
1383	P	DYS021	Dysautonomia	49
1384	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
1385	P	MYC033	Myoclonus	46
1386	c	PNC128	Pain - Chronic	46
1387		PRS063	Paresthesia	45
1388	c	MLG064	Malignant Ependymoma	45
1389	c	MCP047	Mucopolysaccharidosis, Type Iva	45
1390	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	44
1391	c	CRN278	Craniosynostosis 1	44
1392		PLY024	Polymicrogyria	44
1393		SYN058	Synucleinopathy	44
1394		LRG014	Large Cell Neuroendocrine Carcinoma	43
1395	P	CRB088	Cerebral Atrophy	42
1396		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	42
1397	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
1398	c	JBR024	Joubert Syndrome 14	41
1399		DPR002	Depersonalization Disorder	40
1400	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	40
1401	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	40
1402	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	39
1403	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	39
1404	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	39
1405	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	39
1406		MCR222	Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations	38
1407	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	38
1408	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	38
1409	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
1410		WST004	West Nile Encephalitis	38
1411	P	STR001	Striatonigral Degeneration	38
1412	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	37
1413	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
1414	c	BSL038	Basal Ganglia Calcification, Idiopathic, 1	37
1415		IND012	Indifference to Pain, Congenital, Autosomal Recessive	36
1416		SWL001	Swallowing Disorders	36
1417	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	36
1418	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	36
1419		FTD001	Foot Drop	36
1420	c	MCP051	Mucopolysaccharidosis, Type Ix	35
1421	c	ATM007	Autoimmune Disease of Central Nervous System	35
1422		INT003	Intracranial Hypotension	35
1423	P	HYP111	Hyperprolinemia	35
1424	c	PTT029	Pitt-Hopkins-Like Syndrome 1	35
1425	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
1426		MST006	Mast Syndrome	34
1427		GLT019	Glut1 Deficiency Syndrome 2	34
1428		CRB196	Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome	34
1429	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	33
1430	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	32
1431	c	MYS075	Myasthenic Syndrome, Congenital, 13	32
1432	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	32
1433	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	32
1434	c	SPN284	Spinocerebellar Ataxia 38	32
1435	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	32
1436	P	NRN029	Neuronal Intestinal Dysplasia	31
1437	c	JBR025	Joubert Syndrome 17	31
1438	c	CCK002	Cockayne Syndrome Type I	31
1439	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	31
1440	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	30
1441	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
1442	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
1443	c	JBR022	Joubert Syndrome 20	30
1444	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
1445		BYL001	Baylisascariasis	30
1446	c	JBR012	Joubert Syndrome 5	29
1447	c	MYS067	Myasthenic Syndrome, Congenital, 22	29
1448	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	28
1449	c	CRN277	Craniosynostosis 2	28
1450	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	28
1451		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	28
1452	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
1453	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	28
1454	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	28
1455	c	HYP248	Hyperprolinemia, Type I	27
1456	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
1457		GNC005	Geniculate Ganglionitis	27
1458		RCH010	Richieri-Costa/guion-Almeida Syndrome	27
1459	P	STR092	Striatal Degeneration, Autosomal Dominant 2	27
1460	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	27
1461	c	JBR014	Joubert Syndrome 9	27
1462		CNT017	Central Nervous System Origin Vertigo	27
1463		MNN002	Mononeuritis Multiplex	27
1464	c	CRN281	Craniosynostosis 7	26
1465		CMB002	Combat Disorder	26
1466	c	CCK004	Cockayne Syndrome Type Iii	26
1467	c	CRN217	Craniosynostosis 3	25
1468	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	25
1469		MNS002	Mini Stroke	25
1470	c	JBR016	Joubert Syndrome 10	25
1471	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	25
1472	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	25
1473	P	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	25
1474	c	MNT287	Mental Retardation, Autosomal Recessive 57	25
1475	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
1476	c	JBR013	Joubert Syndrome 8	24
1477	c	LKD016	Leukodystrophy, Hypomyelinating, 9	24
1478	c	MYS056	Myasthenic Syndrome, Congenital, 17	24
1479	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	24
1480	c	PTT030	Pitt-Hopkins-Like Syndrome 2	24
1481	c	ATM105	Autoimmune Disease of Peripheral Nervous System	24
1482	c	JBR011	Joubert Syndrome 7	24
1483		MCR064	Microcephaly, Seizures, and Developmental Delay	24
1484		CNT042	Central Nervous System Mesenchymal Non-Meningothelial Tumor	24
1485		ART103	Arthrogryposis, Mental Retardation, and Seizures	24
1486	c	JBR042	Joubert Syndrome 23	23
1487		RTR023	Retroperitoneal Neuroblastoma	23
1488	c	JBR030	Joubert Syndrome 22	23
1489	c	JBR018	Joubert Syndrome 4	23
1490	c	SPN364	Spinocerebellar Ataxia, X-Linked 3	23
1491	c	MYS074	Myasthenic Syndrome, Congenital, 12	23
1492		JWD001	Jawad Syndrome	23
1493	c	CHR094	Chronic Polyneuropathy	23
1494	c	STR101	Striatal Degeneration, Autosomal Dominant 1	23
1495	c	CRN221	Craniosynostosis 4	23
1496		CLF050	Cleft Palate, Cardiac Defects, and Mental Retardation	23
1497	c	MNT282	Mental Retardation, Autosomal Recessive 55	22
1498	c	JBR037	Joubert Syndrome 26	22
1499		LKN017	Leukoencephalopathy with Ataxia	22
1500	P	ENC054	Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations	22
1501	c	ATM089	Autoimmune Neuropathy	22
1502		SFR001	Sifrim-Hitz-Weiss Syndrome	22
1503		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	22
1504	c	LSS035	Lissencephaly 8	22
1505	c	JBR021	Joubert Syndrome 18	22
1506		IMM146	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	22
1507		BRN134	Brain Malformations with or Without Urinary Tract Defects	22
1508		CRB089	Cerebral Beriberi	22
1509	c	JBR039	Joubert Syndrome 28	21
1510	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	21
1511	c	JBR040	Joubert Syndrome 30	21
1512	c	BSL035	Basal Ganglia Calcification, Idiopathic, 5	21
1513	c	CRN256	Craniosynostosis 6	21
1514	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	21
1515	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	21
1516	c	MNT285	Mental Retardation, Autosomal Recessive 58	21
1517		CLB021	Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation	21
1518	c	PRV018	Periventricular Nodular Heterotopia 7	21
1519		NRD036	Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures	21
1520	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	20
1521	c	BSL039	Basal Ganglia Calcification, Idiopathic, 6	20
1522	c	MNT337	Mental Retardation, Autosomal Dominant 58	20
1523	c	MLG023	Malignant Adult Ependymoma	20
1524	c	MNT336	Mental Retardation, Autosomal Recessive 64	20
1525		CNT067	Central Cord Syndrome	20
1526	c	SPN363	Spinocerebellar Ataxia, X-Linked 4	20
1527		MNT118	Mental Retardation, Anterior Maxillary Protrusion, and Strabismus	20
1528	c	MNT339	Mental Retardation, Autosomal Recessive 66	20
1529		SPS209	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	20
1530	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	19
1531	c	JBR036	Joubert Syndrome 25	19
1532	c	MNT263	Mental Retardation, Autosomal Recessive 51	19
1533	c	JBR028	Joubert Syndrome 13	19
1534		NRD054	Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures	19
1535	c	JBR044	Joubert Syndrome 31	19
1536		LKN018	Leukoencephalopathy, Progressive, with Ovarian Failure	19
1537		NRD053	Neurodevelopmental Disorder with Spasticity and Poor Growth	19
1538	c	JBR038	Joubert Syndrome 27	18
1539	c	MNT197	Mental Retardation, X-Linked, Syndromic 9	18
1540	c	MNT335	Mental Retardation, Autosomal Recessive 63	18
1541	c	MNT277	Mental Retardation, Autosomal Recessive 54	18
1542	c	MNT281	Mental Retardation, Autosomal Recessive 59	18
1543		BRN112	Brain Dopamine-Serotonin Vesicular Transport Disease	18
1544	c	MNT338	Mental Retardation, Autosomal Recessive 65	18
1545		CRB158	Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome	18
1546	c	JBR047	Joubert Syndrome 35	18
1547		NRD025	Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations	17
1548		FBR097	Fibrosis, Neurodegeneration, and Cerebral Angiomatosis	17
1549	c	MNT284	Mental Retardation, Autosomal Recessive 56	17
1550	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
1551		NRD043	Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities	17
1552	c	PTT042	Pitt-Hopkins-Like Syndrome	17
1553		NRD052	Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures	17
1554		NRD045	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills	16
1555		MNT331	Mental Retardation, Autosomal Dominant 55, with Seizures	16
1556	c	CRB140	Cerebral Palsy, Spastic Quadriplegic, 2	16
1557		HYD066	Hydrocephalus, Congenital, 3, with Brain Anomalies	16
1558		KRS005	Korsakoff's Amnesic Syndrome	16
1559		SPN409	Spongiform Encephalopathy with Neuropsychiatric Features	16
1560	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	15
1561	c	PRV021	Periventricular Nodular Heterotopia 8	15
1562		PRN006	Parenchymatous Neurosyphilis	15
1563		NRD055	Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum	14
1564	c	DYS194	Dysautonomia-Like Disorder	14
1565		NRD056	Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities	14
1566		NRD035	Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures	14
1567		PST054	Postinfectious Encephalomyelitis	14
1568	c	MLT069	Multiple Mitochondrial Dysfunctions Syndrome 2	13
1569	c	BSL031	Basal Ganglia Calcification, Idiopathic, 2	13
1570	c	CSK002	Cask-Related Intellectual Disability	12
1571		CNT024	Central Nervous System Lipoma	12
1572	c	GNT045	Giant Axonal Neuropathy 2	11
1573		NRS002	Neuroaspergillosis	11
1574		CNT030	Central Nervous System Leiomyosarcoma	10
1575		CNT002	Central Nervous System Angiosarcoma	9
1576		CRV015	Cervical Large Cell Neuroendocrine Carcinoma	9
1577		GNR012	Generalized Gangliosidoses	9
1578	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	9
1579	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	9
1580	P	CNT040	Central Nervous System Mature Teratoma	9
1581	P	CNT039	Central Nervous System Immature Teratoma	9
1582	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
1583		BRS024	Breast Large Cell Neuroendocrine Carcinoma	8
1584	c	ADL040	Adult Brain Ependymoma	8
1585		NRD062	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	8
1586		MCR371	Microcephaly, Growth Deficiency, Seizures, and Brain Malformations	8
1587	c	MYC090	Myoclonus, Familial, 2	8
1588	c	ATS360	Autosomal Recessive Intellectual Disability 58	7
1589	c	ATS410	Autosomal Dominant Intellectual Disability 49	7
1590	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	7
1591	c	TRR002	Trio-Related Intellectual Disability	7
1592	c	WCR002	Wac-Related Intellectual Disability	7
1593	c	SN3001	Sin3a-Related Intellectual Disability Syndrome	7
1594	c	ATS403	Autosomal Dominant Intellectual Disability 40	6
1595	c	CRN093	Craniosynostosis Autosomal Dominant	6
1596	c	ATS348	Autosomal Dominant Intellectual Disability 30	6
1597		BRN116	Brain Stem Medulloblastoma	6
1598		SML035	Small Intestine Carcinoid Neuroendocrine Tumor	5
1599	c	PLY008	Polyneuropathy Due to Drug	5
1600	c	ATS179	Autosomal Recessive Cerebral Atrophy	5
1601	c	DDX001	Ddx3x-Related Intellectual Disability	4
1602	c	ARX002	Arx-Related Intellectual Disability	4
1603	c	ACS002	Acsl4-Related Intellectual Disability	4
1604	P	DYS154	Dystonia	66
1605		MNT002	Mental Depression	65
1606		SPN027	Spinal Stenosis	62
1607	P	EPL140	Epilepsy, Idiopathic Generalized	62
1608	P	OLG002	Oligodendroglioma	60
1609		INT075	Intracranial Hypertension	58
1610		TCK001	Tick-Borne Encephalitis	56
1611	P	DBT005	Diabetes Insipidus	55
1612		GNG002	Ganglioneuroma	54
1613	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	53
1614	c	ADL023	Adult Medulloblastoma	52
1615		MYL001	Myelitis	51
1616	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	50
1617	P	NLX004	Neu-Laxova Syndrome 1	50
1618		BSL008	Basal Ganglia Disease	49
1619		HRD026	Hereditary Ataxia	49
1620	c	ACR116	Aicardi-Goutieres Syndrome 1	48
1621	c	MYS051	Myasthenic Syndrome, Congenital, 5	48
1622		NRR001	Neuroretinitis	48
1623	P	DNR001	Duane Retraction Syndrome	46
1624	P	DMY001	Demyelinating Polyneuropathy	46
1625		ANP006	Anaplastic Ependymoma	46
1626		CRB169	Cerebellar Atrophy, Developmental Delay, and Seizures	46
1627	P	HYP263	Hypersomnia	45
1628		SPN050	Spinocerebellar Degeneration	45
1629		ZKF001	Zika Fever	45
1630	c	LKD010	Leukodystrophy, Hypomyelinating, 2	44
1631		SPS057	Spasticity	44
1632		HRT030	Hartsfield Syndrome	43
1633		BSL009	Basal Ganglia Calcification	43
1634		GRN006	Granulomatous Angiitis	43
1635		SCT001	Sciatic Neuropathy	43
1636		VNC001	Von Economo's Disease	43
1637	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	42
1638	c	AMY090	Amyotrophic Lateral Sclerosis 8	42
1639	c	ATM075	Autoimmune Encephalitis	42
1640	c	RCR002	Recurrent Hypersomnia	42
1641		ENC005	Encephalomalacia	42
1642		HYP016	Hypochondriasis	41
1643		CVR010	Cavernous Malformation	40
1644	c	HNT011	Huntington Disease-Like 3	40
1645	P	AXN001	Axonal Neuropathy	40
1646		CLB026	Colobomatous Microphthalmia	40
1647	c	ATM100	Autoimmune Optic Neuritis	39
1648	c	DNR003	Duane Retraction Syndrome 1	39
1649	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	39
1650	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	39
1651		CRB002	Cerebral Primitive Neuroectodermal Tumor	39
1652		CRB022	Cerebellar Liponeurocytoma	39
1653	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	38
1654		BTR002	Beta-Ureidopropionase Deficiency	38
1655	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	38
1656		ALK024	Alkuraya-Kucinskas Syndrome	38
1657		OLG006	Oligoastrocytoma	38
1658	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	38
1659		MYS054	Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency	38
1660		CGN005	Cognitive Impairment with or Without Cerebellar Ataxia	37
1661	c	ADL008	Adult Oligodendroglioma	37
1662	c	ATS384	Autosomal Dominant Non-Syndromic Intellectual Disability 2	36
1663	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	36
1664		DYS003	Dysgraphia	35
1665		MXD026	Mixed Glioma	35
1666		DFF012	Differentiating Neuroblastoma	35
1667	P	PRS013	Prosopagnosia	35
1668	c	AMY085	Amyotrophic Lateral Sclerosis 9	34
1669	c	SPN266	Spinocerebellar Ataxia 35	34
1670	P	MYS047	Myasthenic Syndrome, Congenital, 1b, Fast-Channel	33
1671	c	AMY067	Amyotrophic Lateral Sclerosis 18	33
1672		BRN018	Borna Disease	33
1673		PRS064	Persistent Vegetative State	33
1674		THY108	Thymic Neuroendocrine Tumor	33
1675		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	33
1676	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	32
1677	c	SPN095	Spinocerebellar Ataxia 19	32
1678	c	SPN383	Spinocerebellar Ataxia 42	32
1679		PSD001	Pseudobulbar Palsy	32
1680		SPS226	Spastic Paraplegia, Ataxia, and Mental Retardation	32
1681	c	HRD198	Hereditary Dystonia	32
1682	c	AMY059	Amyotrophic Lateral Sclerosis 19	32
1683	c	AMY088	Amyotrophic Lateral Sclerosis 3	31
1684		GNT004	Gnathomiasis	31
1685	c	AMY083	Amyotrophic Lateral Sclerosis 11	31
1686		CHL033	Childhood Malignant Schwannoma	31
1687	c	ATS385	Autosomal Dominant Non-Syndromic Intellectual Disability 3	31
1688		DDN005	Duodenal Somatostatinoma	30
1689		BRN137	Bronchial Neuroendocrine Tumor	30
1690		MDN002	Median Neuropathy	30
1691	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
1692		NRL001	Neurilemmoma of the Fifth Cranial Nerve	30
1693	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	30
1694	c	ACR081	Aicardi-Goutieres Syndrome 6	30
1695	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
1696	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	29
1697		ATY004	Atypical Neurofibroma	29
1698		MGL033	Megalocornea-Mental Retardation Syndrome	29
1699		DRG004	Drug-Induced Mental Disorder	28
1700	c	DYS059	Dystonia 16	28
1701	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	28
1702		HYD034	Hydromyelia	28
1703	c	DYS146	Dystonia 24	28
1704		ALP085	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	28
1705	c	DYS162	Dystonia, Juvenile-Onset	27
1706		NRG005	Neurogenic Hypertension	27
1707		EXT044	Extraventricular Neurocytoma	27
1708	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	27
1709	c	ACR084	Aicardi-Goutieres Syndrome 7	26
1710		HGH001	High Pressure Neurological Syndrome	26
1711	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	26
1712	c	SPN372	Spinocerebellar Ataxia 43	26
1713		TXC008	Toxic Optic Neuropathy	26
1714	c	JBR026	Joubert Syndrome 15	26
1715	c	LKD020	Leukodystrophy, Hypomyelinating, 10	26
1716	c	LKD022	Leukodystrophy, Hypomyelinating, 13	26
1717		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	26
1718	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	25
1719	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	25
1720		PHC018	Phace Association	25
1721	c	PNT050	Pontocerebellar Hypoplasia, Type 11	25
1722		CHR607	Chorea, Childhood-Onset, with Psychomotor Retardation	25
1723	c	PRK065	Parkinson Disease 20, Early-Onset	25
1724		CHR506	Choroideremia, Deafness, and Mental Retardation	25
1725	c	DYS145	Dystonia 23	25
1726	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	25
1727		CLL006	Cellular Neurofibroma	24
1728	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	24
1729		CNG538	Congenital Arthrogryposis with Anterior Horn Cell Disease	24
1730		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	24
1731		MLT011	Multiple Mucosal Neuroma	24
1732	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	24
1733		MNT256	Mental Retardation, Buenos Aires Type	24
1734	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	24
1735		SPN187	Spinocerebellar Atrophy	24
1736	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	24
1737	c	RTT008	Rett Syndrome, Congenital Variant	23
1738		SPN368	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	23
1739	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	23
1740	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	23
1741	c	AMY063	Amyotrophic Lateral Sclerosis 20	23
1742	P	SYN064	Syndromic X-Linked Intellectual Disability	23
1743		ACT236	Acute Motor and Sensory Axonal Neuropathy	23
1744	c	INF065	Infantile Hypotonia	23
1745		LSS039	Lissencephaly 6 with Microcephaly	23
1746	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	23
1747		ALC013	Alcohol-Induced Mental Disorder	23
1748	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
1749	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	23
1750		OHT001	Ohtahara Syndrome	23
1751		INT110	Intracranial Cysts	23
1752	c	ATS383	Autosomal Dominant Non-Syndromic Intellectual Disability 1	23
1753	c	HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	23
1754	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
1755		INT312	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	23
1756	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	23
1757	c	CRN216	Craniosynostosis 5	23
1758		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	22
1759		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	22
1760	c	GST091	Gastrointestinal Neuroendocrine Benign Tumor	22
1761		CMB054	Combined Oxidative Phosphorylation Deficiency 23	22
1762		LKD026	Leukodystrophy, Progressive, Early Childhood-Onset	22
1763	c	ENC060	Encephalopathy, Acute, Infection-Induced 1	22
1764	P	SPN039	Spinal Canal and Spinal Cord Meningioma	22
1765	c	JBR035	Joubert Syndrome 24	22
1766	c	MNT181	Mental Retardation, Autosomal Recessive 35	22
1767	c	NLX003	Neu-Laxova Syndrome 2	22
1768	c	DYS172	Dystonia 27	22
1769	c	PRS058	Prosopagnosia, Hereditary	22
1770	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	22
1771	c	MYS060	Myasthenic Syndrome, Congenital, 4b, Fast-Channel	21
1772	c	DYS138	Dystonia 21	21
1773	c	JBR027	Joubert Syndrome 16	21
1774	c	MYS070	Myasthenic Syndrome, Congenital, 19	21
1775		YNH001	Yuan-Harel-Lupski Syndrome	21
1776		CRB087	Cerebral Arteriosclerosis	21
1777	c	SYN078	Syndromic X-Linked Intellectual Disability Type 10	21
1778	c	MYS065	Myasthenic Syndrome, Congenital, 18	21
1779		NRP027	Neuropathy, Painful	21
1780		ENC065	Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization	21
1781		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	21
1782		CMB041	Combined Oxidative Phosphorylation Deficiency 13	21
1783	c	LKD029	Leukodystrophy, Hypomyelinating, 16	21
1784	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	20
1785	c	PRP105	Peripheral Nervous System Benign Neoplasm	20
1786	c	ATN017	Autonomic Nervous System Benign Neoplasm	20
1787	c	EPL093	Epilepsy, Idiopathic Generalized 7	20
1788		BRC121	Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation	20
1789	c	EPL084	Epilepsy, Idiopathic Generalized 11	20
1790		NNS032	Non-Syndromic X-Linked Intellectual Disability	20
1791	c	AMY062	Amyotrophic Lateral Sclerosis 12	20
1792		PRV020	Periventricular Heterotopia with Microcephaly, Autosomal Recessive	20
1793		YHV001	You-Hoover-Fong Syndrome	20
1794		JBR046	Jaberi-Elahi Syndrome	20
1795	c	MNT162	Mental Retardation, Autosomal Recessive 24	20
1796	c	EPL086	Epilepsy, Idiopathic Generalized 9	20
1797		MLT146	Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism	20
1798		TBL027	Tubulinopathy-Associated Dysgyria	20
1799		EPL166	Epilepsy, Early-Onset, Vitamin B6-Dependent	20
1800		MDR006	Moderate and Severe Traumatic Brain Injury	19
1801	c	MNT172	Mental Retardation, Autosomal Recessive 25	19
1802	c	MYS049	Myasthenic Syndrome, Congenital, 3b, Fast-Channel	19
1803		CMB078	Combined Oxidative Phosphorylation Deficiency 32	19
1804		URM001	Uremic Neuropathy	19
1805	c	AMY112	Amyotrophic Lateral Sclerosis 25	19
1806	c	MNT165	Mental Retardation, Autosomal Recessive 28	19
1807		CHR397	Chromosome Xp11.3 Deletion Syndrome	19
1808		KNN010	Kennerknecht Syndrome	19
1809	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
1810	P	CRB125	Cerebral Palsy, Spastic Quadriplegic, 1	19
1811	c	MNT163	Mental Retardation, Autosomal Recessive 30	19
1812		RSS027	Russell-Silver Syndrome, X-Linked	19
1813	c	ENC063	Encephalopathy, Acute, Infection-Induced 7	19
1814	c	MNT182	Mental Retardation, Autosomal Recessive 19	19
1815	c	AMY110	Amyotrophic Lateral Sclerosis 24	19
1816		ECT090	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum	19
1817	c	ATS358	Autism X-Linked 6	18
1818		PTR028	Pterygia, Mental Retardation, and Distinctive Craniofacial Features	18
1819	c	AMY108	Amyotrophic Lateral Sclerosis 23	18
1820	c	MNT167	Mental Retardation, Autosomal Recessive 16	18
1821	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
1822	c	DNR004	Duane Retraction Syndrome 2	18
1823		HYP688	Hypospadias-Mental Retardation Syndrome	18
1824	c	MNT180	Mental Retardation, Autosomal Recessive 33	18
1825	c	MNT170	Mental Retardation, Autosomal Recessive 23	18
1826		MYS050	Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency	18
1827	c	EPL098	Epilepsy, Idiopathic Generalized 12	18
1828	c	MNT161	Mental Retardation, Autosomal Recessive 29	18
1829	c	SYN082	Syndromic X-Linked Intellectual Disability 14	18
1830		CNT034	Central Nervous System Childhood Germ Cell Tumor	18
1831	c	BSL032	Basal Ganglia Calcification, Idiopathic, 4	18
1832		NRN032	Neuroendocrine Tumor of Anal Canal	18
1833		SPN344	Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation	18
1834		OPH013	Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency	18
1835		ARL006	Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation	18
1836		EXT008	Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor	18
1837	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	18
1838	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	18
1839	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	18
1840	c	EPL165	Epilepsy, Idiopathic Generalized 14	17
1841		EXT039	Extrapontine Myelinolysis	17
1842	c	HRD156	Hereditary Central Diabetes Insipidus	17
1843	c	ATS387	Autosomal Dominant Non-Syndromic Intellectual Disability 5	17
1844		INF036	Inflammatory and Toxic Neuropathy	17
1845	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	17
1846		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	17
1847	c	EPL205	Epilepsy, Idiopathic Generalized 13	17
1848	c	EPL091	Epilepsy, Idiopathic Generalized 3	17
1849		SDM003	Sodium Channelopathy-Related Small Fiber Neuropathy	17
1850		ART029	Aortic Arch Anomaly with Peculiar Facies and Mental Retardation	17
1851		DND020	Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy	17
1852		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	17
1853		CBT001	Cubitus Valgus with Mental Retardation and Unusual Facies	17
1854		MYS063	Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency	17
1855		NNP016	Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy	17
1856		ACT235	Acute Macular Neuroretinopathy	17
1857	c	CNT032	Central Nervous System Adult Germ Cell Tumor	17
1858	c	SYN056	Syndromic X-Linked Intellectual Disability 7	17
1859		MNT253	Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis	17
1860		ICH065	Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation	16
1861	c	MNT160	Mental Retardation, Autosomal Recessive 31	16
1862	c	ENC037	Encephalopathy, Acute, Infection-Induced 6	16
1863	c	MNT247	Mental Retardation, X-Linked 73	16
1864		CHM001	Cahmr Syndrome	16
1865		BRN122	Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	16
1866		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	16
1867		ADL042	Adult Malignant Schwannoma	16
1868		MNT255	Mental Retardation and Psoriasis	16
1869		CHR580	Choroid Plexus Calcification and Mental Retardation	16
1870	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	16
1871		MNT030	Mental Retardation Syndrome, Belgian Type	16
1872	c	NRN038	Neuronal Intestinal Dysplasia, Type B	16
1873		ALP090	Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism	16
1874	c	ACQ034	Acquired Central Diabetes Insipidus	16
1875		HRD035	Hair Defect with Photosensitivity and Mental Retardation	16
1876	c	ATS386	Autosomal Dominant Non-Syndromic Intellectual Disability 4	15
1877	P	BSL046	Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	15
1878		PRD033	Periodic Paralysis with Later-Onset Distal Motor Neuropathy	15
1879	c	TRT014	Teratoma of the Central Nervous System	15
1880		SYR007	Syringohydromyelia	15
1881		MYC032	Myoclonic Encephalopathy of Infants	15
1882		EHL082	Ehlers-Danlos Syndrome, Beasley-Cohen Type	15
1883		SPS195	Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation	15
1884	c	MNT194	Mental Retardation, X-Linked 50	15
1885		ECT104	Ectodermal Dysplasia with Mental Retardation and Syndactyly	15
1886		CRN103	Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig	15
1887		MRF017	Marfanoid Mental Retardation Syndrome, Autosomal	15
1888		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	15
1889		NRN023	Neuroendocrine Cell Hyperplasia of Infancy	15
1890		SPS194	Spastic Paresis, Glaucoma, and Mental Retardation	14
1891		MTR081	Motor Neuron Disease with Dementia and Ophthalmoplegia	14
1892	c	EPL208	Epilepsy, Idiopathic Generalized 8	14
1893		SPS193	Spastic Paraplegia, Epilepsy, and Mental Retardation	14
1894		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	14
1895	c	ALP075	Alopecia-Mental Retardation Syndrome 2	14
1896		PLT021	Pili Torti and Developmental Delay	14
1897		CTS046	Cutis Verticis Gyrata and Mental Retardation	14
1898	c	SPR105	Sporadic Fetal Brain Disruption Sequence	14
1899	c	DST092	Distal Hereditary Motor Neuropathy Type 7	14
1900		ACT162	Acute Sensory Ataxic Neuropathy	14
1901	P	MXD039	Mixed Germ Cell Tumor of Central Nervous System	14
1902		MNT315	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism	14
1903		ERB002