Neuronal Diseases Category (5655 diseases)


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

# Family MCID Name MIFTS
1 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
2 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 58
3 NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 54
4 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 20
5 HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 48
6 BRN028 Brain Cancer 74
7 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 30
8 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 27
9 ABD002 Abducens Nerve Disease 41
10 CNC002 Cinca Syndrome 62
11 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 31
12 c MNT135 Mental Retardation, X-Linked, Syndromic 13 38
13 PTT059 Pettigrew Syndrome 44
14 DBT087 Diabetes Insipidus, Neurohypophyseal 62
15 NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 59
16 PNC119 Pancreatic Neuroendocrine Tumor 47
17 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29
18 c DST030 Distal Hereditary Motor Neuropathy, Type V 21
19 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
20 P GNT009 Giant Axonal Neuropathy 52
21 CMB026 Combined Oxidative Phosphorylation Deficiency 12 29
22 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
23 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 44
24 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 42
25 BRN048 Brain Stem Cancer 37
26 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 31
27 MLG077 Malignant Peripheral Nerve Sheath Tumor 59
28 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 53
29 ACS001 Acoustic Neuroma 62
30 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 53
31 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 48
32 P NRD007 Neurodegeneration with Brain Iron Accumulation 48
33 SPN040 Spinal Cancer 42
34 CWC001 Cowchock Syndrome 37
35 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 55
36 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 32
37 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 28
38 ART127 Arthrogryposis Multiplex Congenita, Neurogenic Type 37
39 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 32
40 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 27
41 NRN004 Neuroendocrine Tumor 56
42 P PRP019 Peripheral Nervous System Disease 62
43 c CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 53
44 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 20
45 P NRV006 Nervous System Cancer 56
46 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 45
47 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 42
48 c PRM039 Primary Angiitis of the Central Nervous System 35
49 ATX010 Ataxia Neuropathy Spectrum 32
50 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 23
51 SPL051 Split Spinal Cord Malformation 20
52 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 44
53 PRT052 Partington X-Linked Mental Retardation Syndrome 43
54 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 29
55 CSY002 Coasy Protein-Associated Neurodegeneration 17
56 MSS001 Masa Syndrome 47
57 MLN073 Melanosis, Neurocutaneous 44
58 MGR035 Migraine with Brainstem Aura 21
59 c AMY091 Amyotrophic Lateral Sclerosis 1 91
60 MCL009 Mcleod Syndrome 48
61 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 43
62 P NRF023 Neurofibromatosis, Type Ii 75
63 c NRF024 Neurofibromatosis, Type I 68
64 RBF002 Riboflavin Transporter Deficiency Neuronopathy 18
65 MSC077 Muscle Eye Brain Disease 45
66 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42
67 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 38
68 CRN033 Cranial Nerve Malignant Neoplasm 32
69 MHM001 Mehmo Syndrome 31
70 NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 19
71 PCK003 Pick Disease of Brain 64
72 MLT075 Multifocal Motor Neuropathy 50
73 c FVL008 Foveal Hypoplasia 2 23
74 P CHR071 Charcot-Marie-Tooth Disease 62
75 NRT001 Neurotic Disorder 51
76 PRM175 Primary Familial Brain Calcification 41
77 P ADT009 Auditory Neuropathy Spectrum Disorder 38
78 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 27
79 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26
80 P HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 22
81 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 20
82 P PLZ001 Pelizaeus-Merzbacher Disease 62
83 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 56
84 P CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 51
85 ATN002 Autonomic Nervous System Disease 49
86 P OPT070 Optic Nerve Hypoplasia, Bilateral 49
87 c GRS013 Griscelli Syndrome, Type 1 46
88 CRB151 Cerebral Creatine Deficiency Syndrome 1 45
89 c SPN366 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 36
90 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 35
91 c PLZ002 Pelizaeus-Merzbacher-Like Disease 31
92 MBD001 Mbd5 Haploinsufficiency 28
93 c MNT301 Mental Retardation, X-Linked 21 22
94 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 17
95 SPN186 Spinal Cord Injury 65
96 TXC002 Toxic Encephalopathy 53
97 CHR105 Choreoacanthocytosis 49
98 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 48
99 SPR008 Supratentorial Primitive Neuroectodermal Tumor 44
100 MTR007 Motor Peripheral Neuropathy 38
101 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 29
102 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 25
103 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
104 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
105 P NRN021 Neuronal Ceroid Lipofuscinosis 62
106 PRP021 Peripheral Nervous System Neoplasm 49
107 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 42
108 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 31
109 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 30
110 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25
111 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 24
112 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
113 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 21
114 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
115 CHR639 Chromosome Xp11.22 Duplication Syndrome 14
116 EPD081 Epidermoid Brain Cyst 13
117 BLM002 Bulimia Nervosa 60
118 c NMN013 Niemann-Pick Disease, Type a 57
119 ERY029 Erythermalgia, Primary 56
120 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
121 c CNT033 Central Nervous System Cancer 52
122 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
123 NRF008 Neurofibromatosis-Noonan Syndrome 44
124 LBS001 Lubs X-Linked Mental Retardation Syndrome 43
125 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
126 FCL042 Facial Onset Sensory and Motor Neuronopathy 22
127 RTN207 Retinopathy, Pigmentary, and Mental Retardation 21
128 P GRN052 Grin2b-Related Neurodevelopmental Disorder 8
129 MTR014 Motor Neuron Disease 59
130 CNT019 Central Neurocytoma 45
131 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 41
132 WCK001 Wieacker-Wolff Syndrome 37
133 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 32
134 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
135 CNG102 Congenital Hypomyelination Neuropathy 21
136 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 12
137 P VSC017 Visceral Neuropathy Familial 8
138 P MDL005 Medulloblastoma 75
139 P BRN035 Brain Stem Glioma 51
140 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 32
141 NRV004 Nerve Compression Syndrome 31
142 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 30
143 c MNT296 Mental Retardation, X-Linked, Syndromic 34 27
144 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
145 c MNT187 Mental Retardation, X-Linked 49 22
146 PDT045 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections 22
147 c MNT305 Mental Retardation, X-Linked 12 20
148 MCR046 Microcephaly Brain Defect Spasticity Hypernatremia 14
149 HYP028 Hypoglossal Nerve Disease 12
150 ACC001 Accessory Nerve Disease 9
151 CRN305 Corneal Neuropathic Disease 6
152 NRF007 Neurofibroma 64
153 DBT010 Diabetic Neuropathy 58
154 SNS003 Sensory Peripheral Neuropathy 57
155 LGS001 Legius Syndrome 56
156 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47
157 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31
158 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 27
159 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
160 ANG067 Angioma, Hereditary Neurocutaneous 17
161 VGS001 Vagus Nerve Disease 13
162 CRP001 Carpal Tunnel Syndrome 71
163 ANR007 Anorexia Nervosa 68
164 P CFF008 Coffin-Siris Syndrome 1 60
165 NRM005 Neuromuscular Disease 58
166 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 38
167 CRN031 Cranial Nerve Disease 36
168 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
169 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
170 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26
171 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 24
172 SYN062 Syncope, Familial Vasovagal 22
173 PRT015 Partial Third-Nerve Palsy 20
174 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20
175 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 17
176 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 17
177 OLF001 Olfactory Nerve Disease 13
178 BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 48
179 CNT007 Central Nervous System Tuberculosis 45
180 AMY086 Amyotrophy, Hereditary Neuralgic 39
181 NRN016 Neuronal Migration Disorders 39
182 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 36
183 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 35
184 c NRP062 Neuropathy - Hereditary 31
185 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 24
186 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 20
187 c MNT196 Mental Retardation, X-Linked 92 20
188 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 17
189 PNF001 Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome 7
190 ART141 Arteriovenous Malformations of the Brain 59
191 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 38
192 TTH004 Tethered Spinal Cord Syndrome 37
193 MLN001 Melanotic Neuroectodermal Tumor 35
194 CRB024 Cerebral Neuroblastoma 33
195 JHN004 Johnson Neuroectodermal Syndrome 32
196 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
197 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
198 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 26
199 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
200 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
201 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
202 SLW005 Slowed Nerve Conduction Velocity, Autosomal Dominant 18
203 c MNT200 Mental Retardation, X-Linked 97 18
204 TRC015 Trochlear Nerve Disease 11
205 ADS006 Aids - Neurological Complications 6
206 P NRV007 Nervous System Disease 69
207 OLF005 Olfactory Neuroblastoma 46
208 NRN005 Neuronal Ceroid-Lipofuscinoses 45
209 GLT018 Glut1 Deficiency Syndrome 1 42
210 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 37
211 P CNT037 Central Nervous System Germinoma 35
212 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 35
213 GLL028 Gillespie Syndrome 34
214 OPT008 Optic Nerve Neoplasm 33
215 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
216 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 31
217 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 30
218 AMY005 Amyloid Neuropathy 28
219 THR010 Third Cranial Nerve Disease 26
220 RCT005 Rectum Neuroendocrine Neoplasm 25
221 NRG006 Neurogenic Thoracic Outlet Syndrome 23
222 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 20
223 SPN045 Spinal Cord Primitive Neuroectodermal Neoplasm 11
224 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 8
225 LPS008 Lupus - Neurological Sequelae 6
226 MLT157 Multiple System Atrophy 1 74
227 P INT030 Intracranial Aneurysm 59
228 ALX003 Alexander Disease 58
229 CYS005 Cysticercosis 58
230 TRM010 Traumatic Brain Injury 56
231 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 46
232 NRF003 Neurofibrosarcoma 43
233 NRL004 Neuroleptic Malignant Syndrome 43
234 CNV002 Conversion Disorder 40
235 BRN005 Brain Glioblastoma Multiforme 39
236 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 37
237 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 36
238 LJN003 Lujan-Fryns Syndrome 32
239 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 30
240 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 27
241 VST006 Vestibulocochlear Nerve Disease 25
242 NRS005 Neurosarcoidosis 25
243 WSM002 Waisman Syndrome 24
244 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
245 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 23
246 c NRB015 Neuroblastoma 2 23
247 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
248 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 20
249 CMP082 Complex Cortical Dysplasia with Other Brain Malformations 16
250 LYM055 Lyme Disease - Neurological Complications 6
251 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 4
252 P HNT016 Huntington Disease 73
253 OBS002 Obsessive-Compulsive Disorder 69
254 c CNT035 Central Nervous System Disease 62
255 ACT049 Acute Disseminated Encephalomyelitis 56
256 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 49
257 c HNT010 Huntington Disease-Like 1 48
258 ABC001 Abcd Syndrome 32
259 P GST047 Gastrointestinal Neuroendocrine Tumor 31
260 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 30
261 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
262 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 27
263 SPN043 Spinal Cord Glioma 26
264 PRN033 Paraneoplastic Neurologic Disorders 26
265 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
266 SPN026 Spinal Cord Lymphoma 25
267 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 24
268 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24
269 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 23
270 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
271 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 22
272 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 22
273 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22
274 c NRP055 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 22
275 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
276 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 22
277 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 21
278 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
279 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
280 CRV044 Cervical Hypertrichosis Peripheral Neuropathy 5
281 CL4005 Col4a1-Related Brain Small-Vessel Disease 4
282 LYM017 Lyme Disease 71
283 ATY005 Atypical Teratoid Rhabdoid Tumor 61
284 SPN041 Spinal Cord Disease 52
285 c ATM017 Autoimmune Disease of the Nervous System 49
286 NRS003 Neurosyphilis 48
287 P CRB059 Cerebellar Degeneration 40
288 SPR066 Superficial Siderosis 40
289 P ATS366 Autism X-Linked 2 38
290 TRS001 Tarsal Tunnel Syndrome 37
291 P CRN035 Cranial Nerve Palsy 37
292 NRG003 Neurogenic Arthropathy 34
293 c CFF010 Coffin-Siris Syndrome 3 33
294 c PRM015 Primary Cerebellar Degeneration 31
295 BRN049 Brain Tumor, Childhood 30
296 P SPN410 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 30
297 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 27
298 OCL003 Oculomotor Nerve Paralysis 26
299 c MNT295 Mental Retardation, X-Linked, Syndromic 33 26
300 P FRT001 Fourth Cranial Nerve Palsy 26
301 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 25
302 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 25
303 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 22
304 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
305 ARM006 Armfield X-Linked Mental Retardation Syndrome 22
306 CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22
307 CHL057 Childhood Brain Stem Glioma 21
308 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 21
309 CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20
310 CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 20
311 CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20
312 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 16
313 NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 16
314 PRN063 Peroneal Nerve, Accessory Deep 16
315 RDL001 Radial Nerve Lesion 15
316 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 15
317 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
318 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 11
319 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 10
320 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 10
321 NRV002 Nerve Fibre Bundle Defect 10
322 TTL002 Total Third-Nerve Palsy 10
323 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
324 MLG073 Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath 8
325 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
326 MLG028 Malignant Neoplasm of Acoustic Nerve 8
327 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 8
328 SPN022 Spinal Cord Neuroblastoma 8
329 MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 8
330 c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 6
331 CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 6
332 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 5
333 MBS003 Moebius Axonal Neuropathy Hypogonadism 4
334 TMR014 Tumor of Cranial and Spinal Nerves 4
335 ASY002 Asymptomatic Neurosyphilis 44
336 P SPS133 Spastic Paraplegia 2, X-Linked 40
337 FMR003 Femoral Neuropathy 39
338 WHT019 White-Sutton Syndrome 36
339 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 35
340 BRK002 Birk-Barel Syndrome 34
341 TBS001 Tabes Dorsalis 33
342 BRN036 Brain Stem Infarction 32
343 SCH074 Schuurs-Hoeijmakers Syndrome 32
344 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 30
345 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 30
346 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 29
347 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 29
348 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 28
349 TRT002 Tertiary Neurosyphilis 26
350 XGB001 Xia-Gibbs Syndrome 24
351 BRN011 Brain Stem Astrocytic Neoplasm 23
352 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 23
353 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 22
354 c SPS062 Spastic Paraplegia 34, X-Linked 21
355 KHR001 Kahrizi Syndrome 21
356 c NRB014 Neuroblastoma 3 20
357 PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 20
358 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
359 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 20
360 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 20
361 c ADL054 Adult Brain Stem Glioma 18
362 LCL011 Localized Hypertrophic Neuropathy 16
363 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 16
364 CHL055 Childhood Germ Cell Brain Tumor 8
365 P MNN013 Meningitis 71
366 P TRC102 Trichothiodystrophy 1, Photosensitive 61
367 THR013 Thoracic Outlet Syndrome 55
368 BRN071 Brain Injury 54
369 WRN002 Wernicke-Korsakoff Syndrome 53
370 CNT025 Central Pontine Myelinolysis 49
371 P CHR342 Chiari Malformation 46
372 NRN008 Neuronal Intranuclear Inclusion Disease 45
373 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44
374 HLS003 Helsmoortel-Van Der Aa Syndrome 43
375 c CFF009 Coffin-Siris Syndrome 4 40
376 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
377 c CHR091 Chronic Meningitis 37
378 SPN185 Spinal Cord Infarction 37
379 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 36
380 P BRN030 Brain Ependymoma 35
381 P MYC078 Myoclonus and Ataxia 35
382 TMT003 Temtamy Syndrome 32
383 MLG041 Malignant Triton Tumor 32
384 P SPN042 Spinal Cord Ependymoma 30
385 c CFF007 Coffin-Siris Syndrome 2 30
386 ATM098 Autoimmune Peripheral Neuropathy 28
387 MDR004 Madras Motor Neuron Disease 28
388 P MNT298 Mental Retardation, X-Linked, Syndromic, 35 26
389 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 24
390 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 24
391 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 23
392 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 23
393 c MNT207 Mental Retardation, X-Linked, Syndromic 32 23
394 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 22
395 EPL170 Epilepsy-Aphasia Spectrum 22
396 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 20
397 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 20
398 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 20
399 CLN039 Cln4 Disease 18
400 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18
401 KRK002 Karak Syndrome 17
402 c GSR001 Gosr2-Related Progressive Myoclonus Ataxia 14
403 SPN003 Spinal Cord Dermoid Cyst 10
404 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
405 PLT009 Pili Torti Developmental Delay Neurological Abnormalities 6
406 PNC065 Pinched Nerve 5
407 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 5
408 BRN069 Brain and Spinal Tumors 4
409 STR067 Stroke, Ischemic 85
410 P EPL164 Epilepsy 73
411 CRB037 Cerebral Palsy 71
412 P MCR115 Microvascular Complications of Diabetes 5 70
413 c MCR129 Microvascular Complications of Diabetes 1 64
414 c MCR113 Microvascular Complications of Diabetes 3 57
415 PRN023 Prion Disease 54
416 P TRN034 Transverse Myelitis 53
417 c EPS042 Episodic Ataxia, Type 1 52
418 PPL058 Papilloma of Choroid Plexus 50
419 P LSS002 Lissencephaly 49
420 ISC002 Ischemic Optic Neuropathy 49
421 c BNG023 Benign Familial Infantile Epilepsy 45
422 P PRV002 Periventricular Nodular Heterotopia 45
423 c MCR120 Microvascular Complications of Diabetes 7 44
424 CDQ001 Cauda Equina Syndrome 44
425 c ACT159 Acute Transverse Myelitis 44
426 CRB033 Cerebral Degeneration 43
427 c MCR130 Microvascular Complications of Diabetes 6 43
428 c MCR133 Microvascular Complications of Diabetes 4 43
429 c MCR112 Microvascular Complications of Diabetes 2 42
430 PLX002 Plexiform Neurofibroma 40
431 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 37
432 DYS006 Dysembryoplastic Neuroepithelial Tumor 36
433 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 35
434 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 33
435 HNM002 Hinman Syndrome 32
436 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 30
437 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
438 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 28
439 TRG004 Trigeminal Nerve Neoplasm 27
440 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 27
441 MLS013 Miles-Carpenter Syndrome 26
442 OLF004 Olfactory Nerve Neoplasm 26
443 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 25
444 BRK011 Brooks-Wisniewski-Brown Syndrome 25
445 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
446 P MNT198 Mental Retardation, X-Linked 98 24
447 c MNT191 Mental Retardation, X-Linked, Syndromic 17 23
448 SML004 Small Intestine Neuroendocrine Neoplasm 22
449 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 22
450 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 20
451 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 20
452 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 19
453 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 18
454 MCR333 Microcephaly, Seizures, Spasticity, and Brain Calcifications 18
455 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 18
456 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 18
457 MTR031 Motor Neuro-Ophthalmic Disorders 17
458 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17
459 FLL034 Fallot Complex with Severe Mental and Growth Retardation 17
460 ACT231 Acute Flaccid Myelitis 17
461 LRY013 Laryngeal Neuroendocrine Tumor 17
462 ABD008 Abidi X-Linked Mental Retardation Syndrome 17
463 MTR078 Motor Neuropathy, Peripheral, with Dysautonomia 16
464 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 15
465 BNP001 Bone Peripheral Neuroepithelioma 15
466 CHL003 Childhood Spinal Cord Tumor 15
467 DPB002 Deep Brain Stimulation for Movement Disorders 15
468 SPN007 Spinal Cord Oligodendroglioma 14
469 IDP022 Idiopathic Spinal Cord Herniation 13
470 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 12
471 FCL002 Facial Nerve Neoplasm 11
472 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 11
473 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 10
474 BRN025 Brainstem Intraparenchymal Clear Cell Meningioma 10
475 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 10
476 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 10
477 CNG458 Congenital Abducens Nerve Palsy 10
478 CNT029 Central Nervous System Endodermal Sinus Tumor 9
479 ADL021 Adult Brainstem Gliosarcoma 9
480 ADL035 Adult Spinal Cord Glioblastoma Multiforme 9
481 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 9
482 ANL010 Anal Neuroendocrine Tumor 9
483 VGS002 Vagus Nerve Neoplasm 8
484 BLT005 Bilateral Meningioma of Optic Nerve 8
485 CRN032 Cranial Nerve Iii Tumor 7
486 TRC009 Trochlear Nerve Neoplasm 7
487 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
488 ADL003 Adult Brainstem Mixed Glioma 7
489 MLG027 Malignant Oculomotor Nerve Tumor 7
490 CLS051 Classic Neuroendocrine Tumor of Appendix 7
491 ALZ051 Alzheimer Disease Without Neurofibrillary Tangles 6
492 GLS002 Glossopharyngeal Nerve Neoplasm 6
493 ABD001 Abducens Nerve Neoplasm 6
494 HYP079 Hypoglossal Nerve Neoplasm 6
495 SPN001 Spinal Accessory Nerve Neoplasm 6
496 CHL005 Childhood Mediastinal Neurogenic Tumor 6
497 c SCN040 Secondary Acute Transverse Myelitis 6
498 c DPD002 Depdc5-Related Epilepsy 5
499 P BNG037 Benign Angiitis of the Central Nervous System 5
500 ARN002 Arnold Stickler Bourne Syndrome 5
501 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 5
502 NRL012 Neurological Manifestations of Pompe Disease 5
503 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
504 PST045 Post-Streptococcal Neurologic Disorders 3
505 P ANG001 Angelman Syndrome 67
506 P GLM040 Glioma Susceptibility 1 62
507 TRG002 Trigeminal Neuralgia 60
508 BRN004 Brain Edema 58
509 PRR007 Perry Syndrome 51
510 SPN020 Spondylosis 51
511 P PRN026 Porencephaly 49
512 P RSM001 Rasmussen Encephalitis 49
513 MNN028 Mononeuropathy of the Median Nerve, Mild 45
514 OPT007 Optic Nerve Glioma 44
515 BRC010 Brachial Plexus Lesion 42
516 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 42
517 BRC011 Brachial Plexus Neuropathy 38
518 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
519 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 36
520 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
521 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 34
522 NRT011 Neurotrophic Keratopathy 33
523 PDN001 Pudendal Neuralgia 32
524 NRF016 Neurofibromatosis, Familial Spinal 32
525 NRM006 Neuromuscular Junction Disease 31
526 ULN001 Ulnar Neuropathy 30
527 c SPS212 Spastic Ataxia 5, Autosomal Recessive 28
528 P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 28
529 c MNT248 Mental Retardation, X-Linked 102 28
530 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
531 GRN004 Granulomatous Amebic Encephalitis 27
532 P DST101 Distal Hereditary Motor Neuropathies 27
533 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
534 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 25
535 HRT037 Heart and Brain Malformation Syndrome 25
536 SPR032 Superficial Siderosis of the Central Nervous System 25
537 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 25
538 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 25
539 TNN015 Tonne-Kalscheuer Syndrome 23
540 c GLM025 Glioma Susceptibility 2 22
541 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 22
542 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 22
543 c GLM047 Glioma Susceptibility 3 21
544 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 21
545 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 21
546 NRD050 Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 21
547 CHR655 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 20
548 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 20
549 c RSM003 Rasmussen Subacute Encephalitis 19
550 P ALP076 Alopecia-Mental Retardation Syndrome 1 19
551 c MNT224 Mental Retardation, X-Linked 101 19
552 BCK018 Bickerstaff Brainstem Encephalitis 18
553 c MNT218 Mental Retardation, X-Linked 99 18
554 c MNT294 Mental Retardation, X-Linked 106 18
555 c MNT223 Mental Retardation, X-Linked 100 18
556 c GLM043 Glioma Susceptibility 9 17
557 NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 16
558 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
559 SPN004 Spinal Cord Lipoma 14
560 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
561 BRN023 Brain Stem Ependymoma 10
562 CHL017 Childhood Brain Meningioma 10
563 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
564 c GLM022 Glioma Susceptibility 8 9
565 c GLM019 Glioma Susceptibility 4 9
566 c GLM021 Glioma Susceptibility 6 9
567 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 9
568 c GLM038 Glioma Susceptibility 7 8
569 c GLM020 Glioma Susceptibility 5 8
570 c ANG058 Angelman Syndrome Due to a Point Mutation 6
571 MDS014 Mediastinum Neuroblastoma 6
572 MTR033 Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita 3
573 ART005 Arteriovenous Malformation 65
574 P NRP001 Neuropathy 62
575 TRN015 Transient Cerebral Ischemia 58
576 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 57
577 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
578 GLM004 Gliomatosis Cerebri 53
579 P SYR001 Syringomyelia 49
580 P AST007 Astrocytoma 49
581 GNG005 Gangliocytoma 48
582 c PRM092 Primary Lateral Sclerosis, Adult, 1 47
583 c MLG068 Malignant Glioma 47
584 ATN004 Autonomic Neuropathy 46
585 BRN032 Brain Glioma 44
586 MDL002 Medulloepithelioma 44
587 ARC002 Arachnoiditis 44
588 CNT046 Central Nervous System Vasculitis 43
589 BRN080 Brain Ischemia 41
590 P HYP265 Hypotonia 41
591 EST003 Eastern Equine Encephalitis 39
592 P ATN003 Autonomic Nervous System Neoplasm 36
593 VST001 Vestibular Neuronitis 36
594 P SCH017 Schindler Disease 35
595 CHR543 Chromosome 2q37 Deletion Syndrome 35
596 CNT041 Central Nervous System Melanocytic Neoplasm 35
597 GLS004 Glossopharyngeal Neuralgia 33
598 c BNG059 Benign Glioma 32
599 PLY158 Polyglucosan Body Neuropathy, Adult Form 32
600 BRN031 Brain Germinoma 31
601 BRN021 Brain Sarcoma 31
602 PLM039 Pulmonary Neuroendocrine Tumor 31
603 BRN008 Brain Compression 29
604 MND023 Mend Syndrome 29
605 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 26
606 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
607 ALC002 Alcohol-Related Neurodevelopmental Disorder 24
608 OHD003 Ohdo Syndrome, X-Linked 24
609 TRG003 Trigeminal Nerve Disease 24
610 LSN001 Lesion of Sciatic Nerve 22
611 AMM001 Amme Complex 22
612 c SCN048 Secondary Syringomyelia 22
613 c JVN001 Juvenile Astrocytoma 21
614 HYD065 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 21
615 NRD029 Neurodevelopmental Disorder with Involuntary Movements 21
616 BRN007 Brain Oligodendroglioma 21
617 ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 20
618 BRS005 Breast Neuroendocrine Neoplasm 20
619 c MNT195 Mental Retardation, X-Linked 96 16
620 MNT107 Mental Retardation, Fra12a Type 14
621 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 14
622 NRP058 Neuropathy, Hereditary Sensory, X-Linked 12
623 SCH001 Schwannoma of Twelfth Cranial Nerve 12
624 NRP057 Neuropathy, Hereditary Sensory, Atypical 12
625 c PRM168 Primary Syringomyelia 11
626 c FML255 Familial Syringomyelia 10
627 CHL051 Childhood Brain Germinoma 10
628 FLP002 Floppy Infant Syndrome 10
629 BRN020 Brain Stem Angioblastoma 9
630 CNT013 Central Nervous System Leiomyoma 8
631 CLP007 Clpb Deficiency 8
632 SCR027 Sacral Nerve Root Cysts 7
633 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 5
634 NRL011 Neurological Consequences of Cytomegalovirus Infection 4
635 ANX010 Anxiety 72
636 P ENC004 Encephalitis 66
637 P SZR006 Seizure Disorder 58
638 HMN009 Hemangioblastoma 56
639 P GLM045 Glioma 55
640 P TRM003 Tremor 55
641 HYD061 Hydrocephalus, Normal-Pressure 50
642 NRM004 Neuroma 49
643 P SLL003 Salla Disease 48
644 NNT033 Neonatal Hypoxic and Ischemic Brain Injury 47
645 CRB090 Cerebral Hypoxia 47
646 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 45
647 DBT002 Diabetic Autonomic Neuropathy 44
648 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 43
649 P HMF004 Hemifacial Spasm 42
650 STL001 St. Louis Encephalitis 42
651 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 41
652 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
653 OHD004 Ohdo Syndrome 40
654 SPN018 Spinal Cord Astrocytoma 40
655 HYP264 Hypertonia 36
656 EPD005 Epidural Abscess 36
657 PRM205 Primary Hepatic Neuroendocrine Carcinoma 35
658 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
659 c CNG031 Congenital Nervous System Abnormality 32
660 NRG001 Neurogenic Bowel 32
661 NRX001 Neuroaxonal Dystrophy 32
662 CKS001 Ck Syndrome 32
663 c CNT109 Central Nervous System Benign Neoplasm 31
664 ISC001 Ischemic Neuropathy 31
665 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 30
666 EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 29
667 c LSS010 Lissencephaly 4 29
668 c HMF011 Hemifacial Spasm, Familial 29
669 PRN008 Peroneal Nerve Paralysis 28
670 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 28
671 NRS001 Neuroschistosomiasis 28
672 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 27
673 FST001 Foster-Kennedy Syndrome 27
674 AKL001 Au-Kline Syndrome 27
675 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 26
676 c MLT009 Multiple Cranial Nerve Palsy 25
677 FCL011 Facial Nerve Disease 25
678 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 24
679 TBL007 Tibial Neuropathy 24
680 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
681 ESP009 Esophageal Neuroendocrine Tumor 23
682 ILL008 Ileal Neuroendocrine Tumor 22
683 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
684 PRN016 Peroneal Neuropathy 22
685 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
686 c TRM024 Tremor, Hereditary Essential, 1 21
687 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 21
688 HLL013 Hall-Riggs Mental Retardation Syndrome 21
689 INT022 Intracranial Primitive Neuroectodermal Tumor 21
690 P NNP004 Nonphotosensitive Trichothiodystrophy 21
691 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 20
692 GMS002 Gms Syndrome 20
693 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
694 OVR004 Ovary Neuroendocrine Neoplasm 19
695 MYC075 Myoclonus, Intractable, Neonatal 19
696 c TRM020 Tremor, Hereditary Essential, 2 18
697 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 18
698 c TRM022 Tremor, Hereditary Essential, 5 18
699 NRN045 Neuroendocrine Neoplasm of Appendix 18
700 PBL004 Piebald Trait with Neurologic Defects 18
701 c INF044 Infantile Axonal Neuropathy 18
702 RJB001 Rajab Syndrome 17
703 INT252 Intestinal Neuroendocrine Benign Tumor 17
704 ULN002 Ulnar Nerve Lesion 17
705 LJN002 Lujan Syndrome 17
706 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
707 WLF012 Wolff Mental Retardation Syndrome 17
708 c TRM017 Tremor, Hereditary Essential, 4 17
709 MNN005 Meningovascular Neurosyphilis 16
710 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 16
711 SPN025 Spinal Cord Melanoma 16
712 ULN022 Ulnar Hypoplasia with Mental Retardation 16
713 BRN027 Brain Angioma 16
714 CRB198 Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 16
715 c MNT204 Mental Retardation, X-Linked 23 16
716 c MNT202 Mental Retardation, X-Linked 53 16
717 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
718 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 16
719 PRS131 Prostate Cancer/brain Cancer Susceptibility 15
720 NRC007 Neuroectodermal Endocrine Syndrome 15
721 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
722 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
723 SCH022 Schimke X-Linked Mental Retardation Syndrome 15
724 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15
725 CNG457 Congenital Oculomotor Nerve Palsy 15
726 SPS218 Spastic Diplegia and Mental Retardation 15
727 NRP047 Neuropathy, Hereditary Thermosensitive 15
728 OCL024 Ocular Neuromyotonia 14
729 c NRB012 Neuroblastoma 5 14
730 P MNT312 Mental Health Wellness 1 13
731 CNG362 Congenital Trochlear Nerve Palsy 13
732 EFV001 Efavirenz, Poor Metabolism of 13
733 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 12
734 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 12
735 GLS008 Glossopharyngeal Nerve Disease 12
736 ATN001 Autonomic Peripheral Neuropathy 12
737 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 12
738 SPN024 Spinal Cord Sarcoma 12
739 c NRB011 Neuroblastoma 4 11
740 c TRM016 Tremor, Hereditary Essential, 3 11
741 CLN014 Colon Neuroendocrine Neoplasm 11
742 P FTL014 Fetal Brain Disruption Sequence 11
743 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
744 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
745 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 10
746 P NRP005 Neuropathy Sensory Spastic Paraplegia 10
747 PRS017 Prostate Neuroendocrine Neoplasm 10
748 KCN019 Kcnk9 Imprinting Syndrome 10
749 CRB010 Cerebellopontine Angle Primitive Neuroectodermal 10
750 PRP096 Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 10
751 c NRB013 Neuroblastoma 6 10
752 c NRB016 Neuroblastoma 7 10
753 c INT094 Intermediate Severe Salla Disease 10
754 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 10
755 SPN002 Spinal Cord Intramedullary Teratoma 10
756 NRF005 Neurofibroma of Gallbladder 9
757 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 9
758 YLK002 Yolk Sac Tumor of Central Nervous System 9
759 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 9
760 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 8
761 CLL024 Colloid Cysts of Third Ventricle 8
762 SFT001 Soft Tissue Peripheral Neuroepithelioma 8
763 c SVR017 Severe Infantile Axonal Neuropathy 8
764 MLG125 Malignant Mediastinal Neurogenic Neoplasm 8
765 NRF006 Neurofibroma of the Heart 8
766 SNL005 Senile Degeneration of Brain 8
767 MLG057 Malignant Cardiac Peripheral Nerve Sheath Neoplasm 7
768 c ADL036 Adult Central Nervous System Germinoma 7
769 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
770 c MNT313 Mental Health Wellness 2 7
771 NSL005 Nasal Cavity Olfactory Neuroblastoma 7
772 NRN043 Neuroendocrine Neoplasm of Esophagus 7
773 P ADL055 Adult Central Nervous System Teratoma 7
774 NRV001 Nerve Root Neoplasm 6
775 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
776 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
777 c MLT014 Multiple Spinal Canal and Spinal Cord Meningioma 6
778 CHL053 Childhood Brainstem Astrocytoma 6
779 MLG015 Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum 6
780 THR008 Thoracic Spinal Canal and Spinal Cord Meningioma 6
781 CRV019 Cervical Spinal Canal and Spinal Cord Meningioma 6
782 ADL004 Adult Brainstem Astrocytoma 6
783 PLN002 Plantar Nerve Lesion 6
784 LMB007 Lumbar Spinal Canal and Spinal Cord Meningioma 6
785 SCR007 Sacral Spinal Canal and Spinal Cord Meningioma 6
786 MDS007 Mediastinum Neurofibroma 5
787 NRF001 Neurofibroma of Spinal Cord 5
788 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 5
789 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
790 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 4
791 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
792 CRN091 Craniosynostosis Alopecia Brain Defect 4
793 NRV003 Nervous System Hibernoma 4
794 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 4
795 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
796 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
797 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
798 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
799 SPR039 Supratentorial Primitive Neuroectodermal Tumors, Childhood 3
800 EPL007 Epilepsy Mental Deterioration Finnish Type 3
801 SZR004 Seizures Mental Retardation Hair Dysplasia 3
802 DFN018 Deafness Peripheral Neuropathy Arterial Disease 3
803 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 3
804 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 3
805 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 3
806 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 2
807 HRD059 Hereditary Peripheral Nervous Disorder 2
808 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 2
809 FCL024 Focal or Multifocal Malformations in Neuronal Migration 2
810 SPS043 Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation 2
811 SPN084 Spinal Bulbar Motor Neuropathy 2
812 P ATX030 Ataxia-Telangiectasia 84
813 P ATT013 Attention Deficit-Hyperactivity Disorder 67
814 P CRB048 Cerebral Cavernous Malformations 63
815 PST028 Post-Traumatic Stress Disorder 62
816 APH002 Aphasia 60
817 HMR039 Hemorrhage, Intracerebral 59
818 RDC002 Radiculopathy 53
819 CRB045 Cerebellar Hypoplasia 52
820 P MGL013 Megalencephaly 52
821 c CRB191 Cerebral Cavernous Malformations 2 51
822 MVM001 Movement Disease 49
823 LPD009 Lipid Storage Disease 49
824 PRP056 Porphyria, Acute Hepatic 48
825 CRB027 Cerebellar Disease 48
826 WRN003 Wernicke Encephalopathy 48
827 P CRB101 Cerebrooculofacioskeletal Syndrome 1 45
828 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
829 c CRB094 Cerebral Cavernous Malformations 3 41
830 MTH074 Methionine Adenosyltransferase I/iii Deficiency 40
831 DND001 Dandy-Walker Syndrome 40
832 ASP024 Asparagine Synthetase Deficiency 39
833 P 2HY001 2-Hydroxyglutaric Aciduria 39
834 P CNT036 Central Nervous System Germ Cell Tumor 36
835 P STR001 Striatonigral Degeneration 33
836 ALC011 Alcoholic Neuropathy 31
837 c HYP716 Hypermanganesemia with Dystonia 1 30
838 P SCH077 Schwannomatosis 1 30
839 NRN002 Neuronitis 30
840 BRN034 Brain Meningioma 29
841 BLB005 Beaulieu-Boycott-Innes Syndrome 28
842 P HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 27
843 FZL002 Fazio-Londe Disease 26
844 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
845 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
846 c LKD021 Leukodystrophy, Hypomyelinating, 11 24
847 RDL004 Radial Neuropathy 23
848 PPL060 Papillary Glioneuronal Tumors 23
849 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 22
850 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
851 P HYP821 Hypermanganesemia with Dystonia 22
852 ACT181 Acute Motor Axonal Neuropathy 21
853 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
854 FGS004 Fg Syndrome 4 20
855 HRL006 Harel-Yoon Syndrome 20
856 CRV067 Cervical Neuroblastoma 19
857 OKR001 Okur-Chung Neurodevelopmental Syndrome 18
858 c SCH088 Schwannomatosis 2 18
859 c MNT289 Mental Retardation, X-Linked 103 18
860 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 18
861 HYP646 Hypomagnesemia, Seizures, and Mental Retardation 18
862 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 17
863 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 17
864 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 17
865 CLP002 Colpocephaly 17
866 c MNT333 Mental Retardation, X-Linked 107 17
867 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 16
868 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 16
869 SBN004 Sabinas Brittle Hair Syndrome 16
870 c MNT267 Mental Retardation, X-Linked 104 16
871 c MNT274 Mental Retardation, X-Linked 105 16
872 OSL002 O'sullivan-Mcleod Syndrome 14
873 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 14
874 c ATT020 Attention Deficit-Hyperactivity Disorder 2 13
875 CHL046 Childhood Central Nervous System Mixed Germ Cell Tumor 13
876 PRP102 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 13
877 c MGL035 Megalencephaly, Autosomal Dominant 12
878 c ATT019 Attention Deficit-Hyperactivity Disorder 1 10
879 c ATT022 Attention Deficit-Hyperactivity Disorder 4 9
880 c ATT021 Attention Deficit-Hyperactivity Disorder 3 9
881 c ADL029 Adult Central Nervous System Mixed Germ Cell Tumor 7
882 CLF027 Cleft Palate, Isolated 67
883 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 66
884 ETN001 Eating Disorder 64
885 P MTR004 Maturity-Onset Diabetes of the Young 60
886 P PLY019 Polyneuropathy 58
887 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
888 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
889 SMT006 Somatoform Disorder 52
890 c BNG030 Benign Ependymoma 50
891 CVR006 Cavernous Hemangioma 48
892 HDN002 Head Injury 48
893 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 46
894 c PNC128 Pain - Chronic 46
895 P DYS021 Dysautonomia 45
896 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 45
897 SYN058 Synucleinopathy 44
898 MYC033 Myoclonus 43
899 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
900 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
901 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
902 c CRN278 Craniosynostosis 1 41
903 PLY024 Polymicrogyria 41
904 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 41
905 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 41
906 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 40
907 DPR002 Depersonalization Disorder 40
908 c MLG064 Malignant Ependymoma 40
909 MNN017 Mononeuropathy 40
910 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
911 WST004 West Nile Encephalitis 39
912 PRS063 Paresthesia 39
913 c ATM007 Autoimmune Disease of Central Nervous System 39
914 GLT019 Glut1 Deficiency Syndrome 2 38
915 P CRB088 Cerebral Atrophy 38
916 IND012 Indifference to Pain, Congenital, Autosomal Recessive 38
917 c PSD106 Pseudo-Torch Syndrome 1 38
918 CRN088 Craniorachischisis 37
919 FTD001 Foot Drop 35
920 MST006 Mast Syndrome 35
921 BYL001 Baylisascariasis 34
922 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 34
923 INT003 Intracranial Hypotension 34
924 SWL001 Swallowing Disorders 34
925 c MYS075 Myasthenic Syndrome, Congenital, 13 34
926 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 33
927 c NRV012 Nervous System Benign Neoplasm 31
928 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 29
929 c STR092 Striatal Degeneration, Autosomal Dominant 2 29
930 c CRN277 Craniosynostosis 2 29
931 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
932 CNT017 Central Nervous System Origin Vertigo 28
933 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
934 RCH010 Richieri-Costa/guion-Almeida Syndrome 28
935 CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 27
936 c CRN281 Craniosynostosis 7 27
937 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 27
938 c CHR094 Chronic Polyneuropathy 27
939 c HYP248 Hyperprolinemia, Type I 27
940 CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 26
941 RTR023 Retroperitoneal Neuroblastoma 26
942 c ATM089 Autoimmune Neuropathy 25
943 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 25
944 P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25
945 c LKD016 Leukodystrophy, Hypomyelinating, 9 25
946 c MYS074 Myasthenic Syndrome, Congenital, 12 24
947 MCR064 Microcephaly, Seizures, and Developmental Delay 24
948 ART103 Arthrogryposis, Mental Retardation, and Seizures 24
949 c ATM105 Autoimmune Disease of Peripheral Nervous System 24
950 JWD001 Jawad Syndrome 23
951 P STR101 Striatal Degeneration, Autosomal Dominant 1 23
952 SFR001 Sifrim-Hitz-Weiss Syndrome 23
953 c CRN221 Craniosynostosis 4 23
954 c LSS035 Lissencephaly 8 23
955 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
956 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 23
957 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
958 c PRV018 Periventricular Nodular Heterotopia 7 22
959 LKN017 Leukoencephalopathy with Ataxia 22
960 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
961 c CRN256 Craniosynostosis 6 22
962 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 22
963 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 22
964 BRN134 Brain Malformations with or Without Urinary Tract Defects 22
965 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 22
966 c PRK102 Parkinsonism-Dystonia, Infantile, 2 22
967 CRB089 Cerebral Beriberi 21
968 c CRN217 Craniosynostosis 3 21
969 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 21
970 MNS002 Mini Stroke 21
971 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 21
972 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 21
973 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 21
974 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 20
975 c MNT197 Mental Retardation, X-Linked, Syndromic 9 20
976 c MLG023 Malignant Adult Ependymoma 20
977 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 20
978 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 20
979 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
980 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
981 LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 19
982 P NRN029 Neuronal Intestinal Dysplasia 18
983 CMB002 Combat Disorder 18
984 CNT067 Central Cord Syndrome 18
985 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 18
986 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 18
987 GNC005 Geniculate Ganglionitis 17
988 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 17
989 SPS209 Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy 17
990 NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 16
991 c CRB140 Cerebral Palsy, Spastic Quadriplegic, 2 16
992 HYD066 Hydrocephalus, Congenital, 3, with Brain Anomalies 16
993 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 16
994 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 15
995 c SPN403 Spinocerebellar Ataxia, X-Linked 2 15
996 PRN006 Parenchymatous Neurosyphilis 15
997 c DYS194 Dysautonomia-Like Disorder 14
998 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 14
999 PST054 Postinfectious Encephalomyelitis 14
1000 CNT024 Central Nervous System Lipoma 13
1001 c GNT045 Giant Axonal Neuropathy 2 11
1002 ERB002 Erb's Palsy 11
1003 c SYN073 Syngap1-Related Intellectual Disability 11
1004 CNT030 Central Nervous System Leiomyosarcoma 10
1005 CNT002 Central Nervous System Angiosarcoma 10
1006 NRS002 Neuroaspergillosis 10
1007 SQL002 Squalene Synthase Deficiency 9
1008 P CNT040 Central Nervous System Mature Teratoma 9
1009 P CNT039 Central Nervous System Immature Teratoma 9
1010 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1011 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 8
1012 c ADL040 Adult Brain Ependymoma 8
1013 KRS005 Korsakoff's Amnesic Syndrome 8
1014 BRS024 Breast Large Cell Neuroendocrine Carcinoma 6
1015 BRN116 Brain Stem Medulloblastoma 6
1016 GNR012 Generalized Gangliosidoses 6
1017 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 5
1018 MLT076 Multiple System Atrophy with Orthostatic Hypotension 5
1019 c PLY008 Polyneuropathy Due to Drug 5
1020 c ATS179 Autosomal Recessive Cerebral Atrophy 5
1021 P DYS154 Dystonia 65
1022 P EPL140 Epilepsy, Idiopathic Generalized 62
1023 MNT002 Mental Depression 62
1024 SPN027 Spinal Stenosis 61
1025 P OLG002 Oligodendroglioma 60
1026 INT075 Intracranial Hypertension 57
1027 TCK001 Tick-Borne Encephalitis 56
1028 P MTC133 Mitochondrial Myopathy 54
1029 c ADL023 Adult Medulloblastoma 53
1030 P DBT005 Diabetes Insipidus 52
1031 LRN003 Learning Disability 52
1032 GNG002 Ganglioneuroma 51
1033 MYL001 Myelitis 49
1034 P DNR001 Duane Retraction Syndrome 49
1035 HRD026 Hereditary Ataxia 48
1036 ANP006 Anaplastic Ependymoma 47
1037 P DMY001 Demyelinating Polyneuropathy 46
1038 c MYS051 Myasthenic Syndrome, Congenital, 5 45
1039 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
1040 HRT030 Hartsfield Syndrome 44
1041 P HYP263 Hypersomnia 44
1042 VNC001 Von Economo's Disease 43
1043 BSL008 Basal Ganglia Disease 43
1044 PSD001 Pseudobulbar Palsy 43
1045 ZKF001 Zika Fever 43
1046 BSL009 Basal Ganglia Calcification 42
1047 CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 42
1048 c ATM075 Autoimmune Encephalitis 42
1049 SPS057 Spasticity 42
1050 SPN050 Spinocerebellar Degeneration 42
1051 HYP016 Hypochondriasis 41
1052 c DNR003 Duane Retraction Syndrome 1 40
1053 LRG014 Large Cell Neuroendocrine Carcinoma 40
1054 CVR010 Cavernous Malformation 40
1055 P AXN001 Axonal Neuropathy 40
1056 CRB022 Cerebellar Liponeurocytoma 40
1057 ART110 Arteritic Anterior Ischemic Optic Neuropathy 40
1058 SCT001 Sciatic Neuropathy 39
1059 c ATM100 Autoimmune Optic Neuritis 39
1060 NRR001 Neuroretinitis 39
1061 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 39
1062 CRB002 Cerebral Primitive Neuroectodermal Tumor 38
1063 ALK024 Alkuraya-Kucinskas Syndrome 38
1064 BTR002 Beta-Ureidopropionase Deficiency 38
1065 OLG006 Oligoastrocytoma 37
1066 ENC005 Encephalomalacia 37
1067 c ADL008 Adult Oligodendroglioma 37
1068 GRN006 Granulomatous Angiitis 36
1069 MXD026 Mixed Glioma 35
1070 BRN018 Borna Disease 35
1071 P PRS013 Prosopagnosia 35
1072 DYS003 Dysgraphia 35
1073 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 34
1074 c RCR002 Recurrent Hypersomnia 34
1075 GNT004 Gnathomiasis 34
1076 THY108 Thymic Neuroendocrine Tumor 34
1077 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 34
1078 CLB026 Colobomatous Microphthalmia 33
1079 NRL001 Neurilemmoma of the Fifth Cranial Nerve 33
1080 DFF012 Differentiating Neuroblastoma 33
1081 DDN005 Duodenal Somatostatinoma 33
1082 c HNT011 Huntington Disease-Like 3 33
1083 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 33
1084 ATY004 Atypical Neurofibroma 31
1085 BRN137 Bronchial Neuroendocrine Tumor 31
1086 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 30
1087 PRS064 Persistent Vegetative State 30
1088 MGL033 Megalocornea-Mental Retardation Syndrome 29
1089 c MTC116 Mitochondrial Myopathy, Infantile, Transient 29
1090 HGH001 High Pressure Neurological Syndrome 28
1091 HYD034 Hydromyelia 28
1092 CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 28
1093 CLL006 Cellular Neurofibroma 28
1094 DRG004 Drug-Induced Mental Disorder 27
1095 TXC008 Toxic Optic Neuropathy 27
1096 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 27
1097 NRG005 Neurogenic Hypertension 27
1098 MDR006 Moderate and Severe Traumatic Brain Injury 27
1099 c LKD020 Leukodystrophy, Hypomyelinating, 10 27
1100 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 27
1101 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 26
1102 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
1103 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
1104 c ENC060 Encephalopathy, Acute, Infection-Induced 1 25
1105 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 25
1106 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 25
1107 P SPN039 Spinal Canal and Spinal Cord Meningioma 25
1108 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 25
1109 EXT044 Extraventricular Neurocytoma 25
1110 MDN002 Median Neuropathy 24
1111 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
1112 c LKD023 Leukodystrophy, Hypomyelinating, 12 24
1113 MNT256 Mental Retardation, Buenos Aires Type 24
1114 INT110 Intracranial Cysts 24
1115 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 24
1116 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 24
1117 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 23
1118 ALC013 Alcohol-Induced Mental Disorder 23
1119 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 23
1120 c HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 23
1121 PHC018 Phace Association 23
1122 c RTT008 Rett Syndrome, Congenital Variant 23
1123 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 23
1124 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 23
1125 c ATN017 Autonomic Nervous System Benign Neoplasm 23
1126 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
1127 c MYS070 Myasthenic Syndrome, Congenital, 19 22
1128 c PRS058 Prosopagnosia, Hereditary 22
1129 YNH001 Yuan-Harel-Lupski Syndrome 22
1130 NRP027 Neuropathy, Painful 22
1131 LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 22
1132 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 22
1133 c MYS065 Myasthenic Syndrome, Congenital, 18 22
1134 c EPL093 Epilepsy, Idiopathic Generalized 7 22
1135 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
1136 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 22
1137 URM001 Uremic Neuropathy 22
1138 LSS039 Lissencephaly 6 with Microcephaly 22
1139 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 21
1140 NNS032 Non-Syndromic X-Linked Intellectual Disability 21
1141 MLT011 Multiple Mucosal Neuroma 21
1142 CRB087 Cerebral Arteriosclerosis 21
1143 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 21
1144 YHV001 You-Hoover-Fong Syndrome 21
1145 CMB041 Combined Oxidative Phosphorylation Deficiency 13 21
1146 JBR046 Jaberi-Elahi Syndrome 21
1147 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 21
1148 c EPL084 Epilepsy, Idiopathic Generalized 11 21
1149 PRV020 Periventricular Heterotopia with Microcephaly, Autosomal Recessive 20
1150 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
1151 c EPL086 Epilepsy, Idiopathic Generalized 9 20
1152 TBL027 Tubulinopathy-Associated Dysgyria 20
1153 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 20
1154 CHR397 Chromosome Xp11.3 Deletion Syndrome 20
1155 CMB078 Combined Oxidative Phosphorylation Deficiency 32 19
1156 c INF065 Infantile Hypotonia 19
1157 KNN010 Kennerknecht Syndrome 19
1158 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
1159 P CRB125 Cerebral Palsy, Spastic Quadriplegic, 1 19
1160 c PRN047 Porencephaly 2 19
1161 RSS027 Russell-Silver Syndrome, X-Linked 19
1162 EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 19
1163 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1164 c ATS358 Autism X-Linked 6 19
1165 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
1166 FXL001 Foix-Alajouanine Syndrome 19
1167 c CRN216 Craniosynostosis 5 19
1168 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1169 c DNR004 Duane Retraction Syndrome 2 18
1170 HYP688 Hypospadias-Mental Retardation Syndrome 18
1171 INF036 Inflammatory and Toxic Neuropathy 18
1172 c ACQ034 Acquired Central Diabetes Insipidus 18
1173 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
1174 MYS050 Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 18
1175 c EPL098 Epilepsy, Idiopathic Generalized 12 18
1176 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
1177 EXT039 Extrapontine Myelinolysis 18
1178 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 18
1179 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
1180 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18
1181 SPN187 Spinocerebellar Atrophy 18
1182 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 18
1183 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 18
1184 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
1185 c EPL165 Epilepsy, Idiopathic Generalized 14 18
1186 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 18
1187 c HRD156 Hereditary Central Diabetes Insipidus 18
1188 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 17
1189 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 17
1190 SDM003 Sodium Channelopathy-Related Small Fiber Neuropathy 17
1191 c EPL205 Epilepsy, Idiopathic Generalized 13 17
1192 c EPL091 Epilepsy, Idiopathic Generalized 3 17
1193 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17
1194 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
1195 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
1196 MYS063 Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 17
1197 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1198 ACT235 Acute Macular Neuroretinopathy 17
1199 CHM001 Cahmr Syndrome 17
1200 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 17
1201 c MNT247 Mental Retardation, X-Linked 73 17
1202 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
1203 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 16
1204 NRD054 Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 16
1205 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
1206 MNT255 Mental Retardation and Psoriasis 16
1207 CHR580 Choroid Plexus Calcification and Mental Retardation 16
1208 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
1209 c NRN038 Neuronal Intestinal Dysplasia, Type B 16
1210 NRD052 Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures 16
1211 SPN424 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 16
1212 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
1213 SYR007 Syringohydromyelia 16
1214 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 16
1215 MNT030 Mental Retardation Syndrome, Belgian Type 16
1216 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
1217 c ALP075 Alopecia-Mental Retardation Syndrome 2 15
1218 NRD053 Neurodevelopmental Disorder with Spasticity and Poor Growth 15
1219 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
1220 c MNT194 Mental Retardation, X-Linked 50 15
1221 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
1222 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 15
1223 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15
1224 CCH008 Cochlear Nerve Deficiency 15
1225 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15
1226 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 15
1227 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 15
1228 NTR002 Nutritional Optic Neuropathy 15
1229 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 15
1230 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 15
1231 ACT236 Acute Motor and Sensory Axonal Neuropathy 15
1232 c EPL208 Epilepsy, Idiopathic Generalized 8 14
1233 EXT024 Extracranial Neuroblastoma 14
1234 ADL042 Adult Malignant Schwannoma 14
1235 PLT021 Pili Torti and Developmental Delay 14
1236 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 14
1237 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
1238 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
1239 c DST092 Distal Hereditary Motor Neuropathy Type 7 14
1240 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
1241 NRN032 Neuroendocrine Tumor of Anal Canal 14
1242 GLL034 Gallbladder Neuroendocrine Tumor 14
1243 ACT162 Acute Sensory Ataxic Neuropathy 14
1244 ACT161 Acute Pandysautonomia 14
1245 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 14
1246 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 14
1247 RVN001 Ravine Syndrome 14
1248 CHL033 Childhood Malignant Schwannoma 14
1249 c ALP063 Alopecia-Mental Retardation Syndrome 3 14
1250 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
1251 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 13
1252 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
1253 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 13
1254 THY092 Thymic Neuroendocrine Carcinoma 13
1255 INF124 Infundibulo-Neurohypophysitis 13
1256 MND028 Mandibulofacial Dysostosis with Mental Retardation 13
1257 CHR628 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 13
1258 NRD055 Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 13
1259 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 13
1260 CRM012 Cree Mental Retardation Syndrome 13
1261 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 13
1262 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 13
1263 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 13
1264 SCL044 Scalp Syndrome 13
1265 NRL021 Neurologic Disease, Infantile Multisystem, with Osseous Fragility 13
1266 c EPL089 Epilepsy, Idiopathic Generalized 4 13
1267 MNT250 Mental Retardation with Spastic Paraplegia 12
1268 P MXD039 Mixed Germ Cell Tumor of Central Nervous System 12
1269 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 12
1270 c EPL090 Epilepsy, Idiopathic Generalized 5 12
1271 CLC058 Clcn2-Related Leukoencephalopathy 12
1272 CHL027 Childhood Central Nervous System Germinoma 12
1273 c MNT205 Mental Retardation, X-Linked 42 12
1274 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 12
1275 MDN009 Median-Ulnar Nerve Communications 12
1276 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 12
1277 SPT020 Spatial Visualization, Aptitude for 12
1278 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12
1279 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 12
1280 c EPL092 Epilepsy, Idiopathic Generalized 2 11
1281 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 11
1282 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 11
1283 PCN001 Pacinian Tumor 11
1284 SPN388 Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 11
1285 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 11
1286 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
1287 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
1288 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 11
1289 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
1290 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 11
1291 MDD017 Middle Ear Neuroendocrine Tumor 11
1292 LRY052 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 11
1293 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
1294 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 11
1295 NDL022 Nodular Neuronal Heterotopia 11
1296 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 11
1297 XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 11
1298 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 11
1299 CRB178 Cerebellar Ataxia and Neurosensory Deafness 11
1300 PRP018 Peripheral Nerve Schwannoma 10
1301 RCR030 Recurrent Idiopathic Neuroretinitis 10
1302 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
1303 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 10
1304 NRP061 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia 10
1305 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 10
1306 XLN091 X-Linked Neurodegenerative Syndrome, Hamel Type 10
1307 HRD175 Hereditary Motor and Sensory Neuropathy with Acrodystrophy 10
1308 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
1309 c PRM246 Primary Tethered Cord Syndrome 10
1310 MNT299 Mental and Growth Retardation with Amblyopia 10
1311 MYC032 Myoclonic Encephalopathy of Infants 10
1312 LNT009 Lentiginosis, Centrofacial Neurodysraphic 10
1313 MLG153 Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation 10
1314 EPT006 Epithelioid Neurofibroma 10
1315 MSC144 Muscular Atrophy, Malignant Neurogenic 9
1316 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
1317 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 9
1318 MYL068 Myelinated Optic Nerve Fibers 9
1319 ELC003 Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus 9
1320 P CRN291 Cranial Nerves, Recurrent Paresis of 9
1321 IND013 Indolylacroyl Glycinuria with Mental Retardation 9
1322 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
1323 CNT034 Central Nervous System Childhood Germ Cell Tumor 9
1324 OPH019 Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 9
1325 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 9
1326 CRT047 Creatine Kinase, Brain Type, Ectopic Expression of 9
1327 NRF004 Neurofibroma of the Esophagus 8
1328 PSD115 Pseudouridinuria and Mental Defect 8
1329 JJN001 Jejunal Somatostatinoma 8
1330 HYP778 Hypertrophic Neuropathy and Cataract 8
1331 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 8
1332 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 8
1333 c CRN290 Cranial Nerves, Congenital Paresis of 8
1334 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 8
1335 TBL001 Tibial Nerve Palsy 8
1336 PRP104 Prepubertal Anorexia Nervosa 8
1337 MDF003 Modifier, X-Linked, for Neurofunctional Defects 8
1338 CNT021 Central Nervous System Rhabdomyosarcoma 7
1339 c ADL041 Adult Spinal Cord Ependymoma 7
1340 HYP797 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses 7
1341 PRP089 Prp Systemic Amyloidosis 7
1342 NRV014 Neurovisceral Storage Disease with Curvilinear Bodies 7
1343 c CNT032 Central Nervous System Adult Germ Cell Tumor 7
1344 CNT027 Central Nervous System Fibrosarcoma 7
1345 CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 7
1346 SVR052 Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency 7
1347 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 7
1348 ASY004 Asymmetric Motor Neuropathy 7
1349 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
1350 NRH002 Neurohypophysis Granular Cell Tumor 6
1351 GLS003 Glossopharyngeal Nerve Paralysis 6
1352 c TRT014 Teratoma of the Central Nervous System 6
1353 PRP020 Peripheral Nervous System Ganglioneuroblastoma 6
1354 CNT066 Central Cervical Cord Syndrome 6
1355 CMB029 Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves 6
1356 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 6
1357 NRV013 Nerve Growth Factor, Alpha Subunit 6
1358 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 6
1359 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 6
1360 NRV005 Nerve Plexus Neoplasm 6
1361 ACT163 Acute Pure Sensory Neuropathy 6
1362 CNT014 Central Nervous System Osteosarcoma 6
1363 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1364 NRP028 Neuropathy with Hearing Impairment 5
1365 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
1366 NRT003 Neurotrophic Keratoconjunctivitis 5
1367 CNT012 Central Nervous System Chondroma 5
1368 NNT034 Neonatal Brainstem Dysfunction 5
1369 MLN006 Melanocytic Psammomatous Mpnst 5
1370 IDP004 Idiopathic Peripheral Autonomic Neuropathy 5
1371 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 5
1372 FTL051 Fatal Post-Viral Neurodegenerative Disorder 5
1373 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5
1374 INF171 Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1375 MNT314 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 5
1376 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1377 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 5
1378 NRP056 Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive 5
1379 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
1380 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 5
1381 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 5
1382 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1383 CMM002 Common Peroneal Nerve Lesion 5
1384 ATS093 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain 5
1385 GLB014 Glioblastoma Neural Subtype 5
1386 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
1387 BLB001 Bulbospinal Polio 5
1388 c ADL012 Adult Central Nervous System Immature Teratoma 4
1389 c ADL011 Adult Central Nervous System Mature Teratoma 4
1390 HMN006 Hemangioma of Peripheral Nerve 4
1391 CHL047 Childhood Central Nervous System Mature Teratoma 4
1392 CHL019 Childhood Central Nervous System Immature Teratoma 4
1393 GLT033 Glutamic Acid Decarboxylase, Brain, Membrane Form 4
1394 MCR342 Microcephaly, Macrotia, and Mental Retardation 4
1395 GLS006 Glossopharyngeal Motor Neuropathy 4
1396 c CHR461 Choriocarcinoma of the Central Nervous System 4
1397 PRG048 Progressive Locomotor Ataxia 4
1398 GRS004 Gars-Associated Axonal Neuropathy 4
1399 ATS357 Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome 4
1400 MCR298 Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome 4
1401 SYP007 Syphilitic Spinal Sclerosis 3
1402 INF172 Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome 3
1403 PLS036 Plaa-Associated Neurodevelopmental Disorder 3
1404 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
1405 c HRD062 Hereditary Type 1 Neuropathy 3
1406 c HRD063 Hereditary Type 2 Neuropathy 3
1407 c CHD006 Chd2-Related Neurodevelopmental Disorders 3
1408 c PRR032 Pura-Related Neurodevelopmental Disorders 3
1409 NRG007 Neurogenic Palpebral Tumor 3
1410 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3
1411 NRM007 Neuroma Biliary Tract 2
1412 NRN007 Neuronal Interstitial Dysplasia 2
1413 BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 2
1414 ATP015 Atp1a3-Related Neurologic Disorders 1
1415 ALK018 Alk-Related Neuroblastic Tumor Susceptibility 1
1416 MYL069 Myeloma, Multiple 85
1417 NRL016 Neural Tube Defects 79
1418 P NNN008 Noonan Syndrome 1 79
1419 P PRK057 Parkinson Disease, Late-Onset 76
1420 P SRC025 Sarcoidosis 1 76
1421 P MLT020 Multiple Sclerosis 75
1422 P MYS003 Myasthenia Gravis 74
1423 PHN003 Phenylketonuria 73
1424 P NRB001 Neuroblastoma 73
1425 BHC003 Behcet Syndrome 73
1426 VNH007 Von Hippel-Lindau Syndrome 72
1427 ADR007 Adrenoleukodystrophy 72
1428 FBR012 Fabry Disease 72
1429 P SPR120 Supranuclear Palsy, Progressive, 1 71
1430 P TYS001 Tay-Sachs Disease 70
1431 P LPR021 Leprosy 3 70
1432 P FRG001 Fragile X Syndrome 70
1433 P SYS005 Systemic Scleroderma 69
1434 P TRN020 Turner Syndrome 69
1435 c MGR028 Migraine with or Without Aura 1 69
1436 SMT004 Smith-Lemli-Opitz Syndrome 69
1437 P HMP002 Hemophagocytic Lymphohistiocytosis 69
1438 P TMP003 Temporal Arteritis 69
1439 P AMY004 Amyloidosis 68
1440 P PSD087 Pseudoxanthoma Elasticum 68
1441 GRN037 Granulomatosis with Polyangiitis 68
1442 P ORT004 Orthostatic Intolerance 68
1443 P DYS007 Dyskeratosis Congenita 68
1444 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 68
1445 P KRB001 Krabbe Disease 68
1446 P WLD002 Waldenstrom Macroglobulinemia 68
1447 c TBR026 Tuberous Sclerosis 2 67
1448 INC021 Incontinentia Pigmenti 67
1449 CRB039 Cerebrovascular Disease 67
1450 LWC002 Lowe Oculocerebrorenal Syndrome 67
1451 P MCP040 Mucopolysaccharidosis-Plus Syndrome 67
1452 P NRM001 Neuromyelitis Optica 66
1453 CST001 Costello Syndrome 66
1454 P HYD006 Hydrocephalus 66
1455 P CRD224 Cardiofaciocutaneous Syndrome 1 66
1456 c GLY008 Glycogen Storage Disease Ii 66
1457 P KBK002 Kabuki Syndrome 1 66
1458 P CCK001 Cockayne Syndrome 65
1459 TNG002 Tangier Disease 64
1460 c MCP050 Mucopolysaccharidosis, Type Ii 64
1461 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
1462 c FML346 Familial Adenomatous Polyposis 1 64
1463 P RBL001 Rubella 64
1464 P GCH001 Gaucher's Disease 64
1465 INT002 Intermittent Claudication 63
1466 WLL001 Williams-Beuren Syndrome 63
1467 GLB015 Glioblastoma Multiforme 63
1468 P MCK013 Meckel Syndrome, Type 1 62
1469 RFS006 Refsum Disease, Classic 62
1470 LSC001 Lesch-Nyhan Syndrome 62
1471 CRB011 Cerebrotendinous Xanthomatosis 62
1472 c NMN016 Niemann-Pick Disease, Type B 62
1473 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 62
1474 NRR002 Norrie Disease 62
1475 c MCP049 Mucopolysaccharidosis, Type Vii 62
1476 HRP004 Herpes Zoster 61
1477 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
1478 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1479 c GCH015 Gaucher Disease, Type I 61
1480 P NMN002 Niemann-Pick Disease 61
1481 P UVT001 Uveitis 61
1482 HDC001 Headache 61
1483 CFF002 Coffin-Lowry Syndrome 61
1484 P GLY013 Glycogen Storage Disease 60
1485 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
1486 c NNN010 Noonan Syndrome 3 59
1487 NTH001 Netherton Syndrome 59
1488 c MNN047 Mannosidosis, Alpha B, Lysosomal 59
1489 P CHL002 Childhood Absence Epilepsy 59
1490 STR039 Sturge-Weber Syndrome 59
1491 c PRX045 Peroxisome Biogenesis Disorder 1b 59
1492 c GLC097 Glaucoma 3, Primary Congenital, a 58
1493 RLP002 Relapsing-Remitting Multiple Sclerosis 58
1494 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58
1495 P HLL001 Hallermann-Streiff Syndrome 58
1496 ANN002 Anencephaly 57
1497 DMY004 Demyelinating Disease 57
1498 P TMP001 Temporal Lobe Epilepsy 57
1499 P LKD001 Leukodystrophy 57
1500 PRP032 Porphyria Variegata 57
1501 SLP005 Sleep Disorder 57
1502 P INF016 Infantile Epileptic Encephalopathy 57
1503 STR020 Strabismus 56
1504 ASP003 Aseptic Meningitis 56
1505 ASP002 Aspartylglucosaminuria 55
1506 CPR004 Coproporphyria, Hereditary 55
1507 HRL003 Hurler Syndrome 55
1508 c INT064 Intermediate Uveitis 55
1509 OST024 Osteoporosis-Pseudoglioma Syndrome 55
1510 NRT004 Neuritis 55
1511 c CRN139 Cornelia De Lange Syndrome 1 55
1512 LPR001 Lepromatous Leprosy 55
1513 P HYP050 Hyperinsulinemic Hypoglycemia 55
1514 P FBR031 Febrile Seizures 55
1515 CHN055 Chanarin-Dorfman Syndrome 55
1516 P INF049 Infantile Myofibromatosis 54
1517 MLT135 Multiple Sulfatase Deficiency 54
1518 SPS003 Spastic Diplegia 54
1519 ART002 Arts Syndrome 54
1520 c GCH016 Gaucher Disease, Type Ii 54
1521 FCL014 Focal Epilepsy 54
1522 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 54
1523 PRV006 Pervasive Developmental Disorder 53
1524 P MGR003 Migraine with Aura 53
1525 ERL001 Early Myoclonic Encephalopathy 53
1526 CRT013 Carotid Stenosis 53
1527 P GRS003 Griscelli Syndrome 53
1528 c CHL140 Chilblain Lupus 1 53
1529 TRS021 Triosephosphate Isomerase Deficiency 52
1530 GLC012 Galactosialidosis 52
1531 P MYM013 Moyamoya Disease 1 52
1532 c SCN036 Secondary Progressive Multiple Sclerosis 52
1533 c PRM108 Primary Progressive Multiple Sclerosis 52
1534 RFL001 Reflex Sympathetic Dystrophy 52
1535 FCL012 Facial Paralysis 51
1536 DYS073 Dysphagia 51
1537 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
1538 CTY001 Cat Eye Syndrome 51
1539 c ATS393 Autosomal Recessive Cutis Laxa Type I 51
1540 CCH002 Coach Syndrome 51
1541 BRT005 Barth Syndrome 51
1542 HNN001 Hennekam Syndrome 51
1543 c CCK007 Cockayne Syndrome B 51
1544 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
1545 NNT017 Neonatal Adrenoleukodystrophy 50
1546 DBT004 Diabetic Polyneuropathy 50
1547 WHP001 Whipple Disease 50
1548 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
1549 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
1550 P EPL116 Epileptic Encephalopathy, Childhood-Onset 50
1551 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 50
1552 QDR001 Quadriplegia 50
1553 c ATM099 Autoimmune Uveitis 50
1554 PRV004 Periventricular Leukomalacia 49
1555 P MTC069 Mitochondrial Disorders 49
1556 PHH001 Phaeohyphomycosis 49
1557 c PRX059 Peroxisome Biogenesis Disorder 1a 49
1558 c GCH017 Gaucher Disease, Type Iii 49
1559 TBR006 Tuberculoid Leprosy 49
1560 JHN001 Johanson-Blizzard Syndrome 49
1561 c GRS014 Griscelli Syndrome, Type 2 49
1562 P TYR004 Tyrosinemia 49
1563 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
1564 FRB001 Farber Lipogranulomatosis 49
1565 CRY014 Cryptococcal Meningitis 49
1566 MNN009 Meningoencephalitis 49
1567 c NNN012 Noonan Syndrome 5 48
1568 RNP003 Renpenning Syndrome 1 48
1569 P MGR001 Migraine Without Aura 48
1570 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 48
1571 DNN001 Danon Disease 48
1572 c SCH079 Schizophrenia 1 48
1573 TRN022 Transcobalamin Ii Deficiency 48
1574 PLR009 Pol Iii-Related Leukodystrophies 48
1575 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 47
1576 c NRC009 Narcolepsy 1 47
1577 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 47
1578 CHR073 Choreatic Disease 47
1579 c CNT015 Central Sleep Apnea 47
1580 c OPT051 Opitz Gbbb Syndrome, Type I 47
1581 PHY002 Physical Disorder 47
1582 SND002 Sneddon Syndrome 47
1583 SPS007 Spastic Cerebral Palsy 47
1584 HRT031 Hartnup Disorder 47
1585 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
1586 MCR173 Microform Holoprosencephaly 47
1587 c HLP023 Holoprosencephaly 1 47
1588 c SCK009 Seckel Syndrome 1 47
1589 P MWT001 Mowat-Wilson Syndrome 46
1590 P NLX004 Neu-Laxova Syndrome 1 46
1591 c HYD064 Hydrocephalus, Congenital, 1 46
1592 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 46
1593 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
1594 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
1595 CSL001 Causalgia 46
1596 PLM021 Pilomyxoid Astrocytoma 46
1597 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 46
1598 PLL008 Pallister-Killian Syndrome 46
1599 P EPN001 Ependymoblastoma 46
1600 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
1601 SYM002 Sympathetic Ophthalmia 45
1602 c ERL020 Early-Onset Schizophrenia 45
1603 c MYP072 Myopathy, Myofibrillar, 1 45
1604 c NML003 Nemaline Myopathy 2 45
1605 P DYS023 Dyschromatosis Universalis Hereditaria 45
1606 c 3MT015 3-Methylglutaconic Aciduria, Type I 45
1607 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
1608 INT010 Intracranial Embolism 45
1609 c GLY023 Glycogen Storage Disease Type 0 45
1610 CRB004 Cerebral Artery Occlusion 45
1611 P MNN018 Mannosidosis 45
1612 MNN032 Meningococcal Meningitis 45
1613 c DYS119 Dystonia 9 45
1614 c OTP007 Otopalatodigital Syndrome, Type Ii 45
1615 CRT008 Carotid Artery Dissection 45
1616 P MYG005 Myoglobinuria 45
1617 MNN001 Meningeal Melanocytoma 45
1618 c NML002 Nemaline Myopathy 1 44
1619 GNG008 Ganglioneuroblastoma 44
1620 CRB086 Cerebral Aneurysms 44
1621 PLY020 Polyradiculoneuropathy 44
1622 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
1623 BDY001 Body Dysmorphic Disorder 44
1624 PST027 Postencephalitic Parkinson Disease 44
1625 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 44
1626 c MCK012 Meckel Syndrome, Type 6 44
1627 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
1628 c ACR116 Aicardi-Goutieres Syndrome 1 44
1629 c NNN009 Noonan Syndrome 2 44
1630 PHS021 Phosphoglycerate Dehydrogenase Deficiency 44
1631 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
1632 NNC002 Nance-Horan Syndrome 43
1633 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
1634 c DYS146 Dystonia 24 43
1635 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 43
1636 c TYR011 Tyrosinemia, Type Iii 43
1637 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 43
1638 PTH003 Pathologic Nystagmus 43
1639 c MYS078 Myasthenic Syndrome, Congenital, 14 43
1640 CRT015 Carotid Artery Occlusion 43
1641 P MTC004 Mitochondrial Encephalomyopathy 42
1642 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
1643 c NML005 Nemaline Myopathy 4 42
1644 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
1645 FRG010 Fragile X Tremor/ataxia Syndrome 42
1646 MYP139 Myopathy, Proximal, and Ophthalmoplegia 42
1647 c NML004 Nemaline Myopathy 3 42
1648 RHB002 Rhabdoid Meningioma 42
1649 PNM013 Pneumococcal Meningitis 42
1650 c AMY069 Amyotrophic Lateral Sclerosis 21 42
1651 c MCR263 Microphthalmia, Syndromic 1 42
1652 c 3MT014 3-Methylglutaconic Aciduria, Type V 42
1653 c GLY098 Glycogen Storage Disease, Type Ixd 42
1654 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 41
1655 KBG001 Kbg Syndrome 41
1656 MYH012 Myhre Syndrome 41
1657 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
1658 c PRM212 Primary Microcephaly 41
1659 GNT031 Genitopatellar Syndrome 41
1660 PST086 Posterior Cortical Atrophy 41
1661 c HNT004 Huntington Disease-Like 2 41
1662 MRR003 Murray Valley Encephalitis 41
1663 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
1664 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 41
1665 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 41
1666 c PNT049 Pontocerebellar Hypoplasia, Type 2d 41
1667 c HLP029 Holoprosencephaly 4 40
1668 PDT035 Pediatric Systemic Lupus Erythematosus 40
1669 c GLL038 Galloway-Mowat Syndrome 1 40
1670 P CNG024 Congenital Nystagmus 40
1671 c SCK015 Seckel Syndrome 2 40
1672 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
1673 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1674 c SPL034 Split-Hand/foot Malformation 4 40
1675 ESN006 Eosinophilic Meningitis 40
1676 CLL001 Cellular Schwannoma 40
1677 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
1678 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
1679 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 40
1680 c HLP024 Holoprosencephaly 2 40
1681 ATY002 Atypical Choroid Plexus Papilloma 40
1682 EXT022 Exotropia 40
1683 NDL005 Nodular Medulloblastoma 40
1684 c PRG011 Progressive Myoclonus Epilepsy 40
1685 c ERL056 Early-Onset Parkinson's Disease 40
1686 ORM002 Oromandibular Dystonia 40
1687 c EPL114 Epilepsy, Familial Temporal Lobe, 1 40
1688 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
1689 HYP026 Hypoglycemic Coma 40
1690 NNK001 Nonaka Myopathy 40
1691 ALG001 Algoneurodystrophy 40
1692 c VNM003 Van Maldergem Syndrome 1 40
1693 c HLP026 Holoprosencephaly 3 40
1694 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 40
1695 P GNG010 Gangliosidosis Gm2 40
1696 c NNN011 Noonan Syndrome 4 40
1697 c MYC068 Myoclonic Epilepsy of Infancy 39
1698 P LSS024 Lissencephaly with Cerebellar Hypoplasia 39
1699 c RTS003 Ritscher-Schinzel Syndrome 1 39
1700 MDL003 Medullomyoblastoma 39
1701 BLT001 Bilateral Retinoblastoma 39
1702 c JBR015 Joubert Syndrome 6 39
1703 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
1704 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
1705 c JVN009 Juvenile Pilocytic Astrocytoma 39
1706 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
1707 c TYP024 Type Ii Mixed Cryoglobulinemia 39
1708 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39
1709 VRT003 Vertebrobasilar Insufficiency 39
1710 SML028 Semilobar Holoprosencephaly 39
1711 c NNN013 Noonan Syndrome 6 39
1712 CHR667 Chromosome 3pter-P25 Deletion Syndrome 39
1713 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
1714 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1715 c JBR024 Joubert Syndrome 14 39
1716 PLX004 Plexopathy 39
1717 P JVN008 Juvenile Glaucoma 39
1718 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 39
1719 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
1720 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
1721 GLC084 Glaucoma, Normal Tension 39
1722 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
1723 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 39
1724 HYP034 Hypertensive Encephalopathy 38
1725 c CNR023 Cone-Rod Dystrophy 8 38
1726 c GLC083 Glaucoma 3, Primary Infantile, B 38
1727 PRT005 Protoplasmic Astrocytoma 38
1728 PST055 Postural Hypotension 38
1729 HRL004 Hurler-Scheie Syndrome 38
1730 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 38
1731 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
1732 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 38
1733 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
1734 INT042 Internuclear Ophthalmoplegia 38
1735 c MCL016 Mucolipidosis Iii Gamma 38
1736 PPL050 Papillary Tumor of the Pineal Region 38
1737 c EPS017 Episodic Ataxia, Type 6 38
1738 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
1739 MLL002 Miller Fisher Syndrome 38
1740 c CNR016 Cone-Rod Dystrophy 7 38
1741 c ZMM002 Zimmermann-Laband Syndrome 1 38
1742 OBS004 Obstructive Hydrocephalus 38
1743 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 38
1744 ALB014 Alobar Holoprosencephaly 38
1745 c WRB005 Warburg Micro Syndrome 4 38
1746 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 38
1747 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
1748 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
1749 c MCP051 Mucopolysaccharidosis, Type Ix 38
1750 P CMM008 Communicating Hydrocephalus 38
1751 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
1752 CLS049 Classic Phenylketonuria 38
1753 CRB009 Cerebritis 37
1754 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 37
1755 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1756 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
1757 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1758 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
1759 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 37
1760 LBR025 Lobar Holoprosencephaly 37
1761 c EPL115 Epilepsy, Familial Temporal Lobe, 2 37
1762 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 37
1763 GLY032 Glycosylphosphatidylinositol Deficiency 37
1764 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 37
1765 c NRC010 Narcolepsy 2 37
1766 DVL001 Developmental Coordination Disorder 37
1767 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
1768 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
1769 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1770 SCR011 Scrapie 37
1771 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
1772 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 37
1773 c MCK014 Meckel Syndrome, Type 5 37
1774 AKN002 Akinetic Mutism 36
1775 MDD003 Middle Cerebral Artery Infarction 36
1776 NTR007 Neutral Lipid Storage Disease with Myopathy 36
1777 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
1778 c CNG188 Congenital Disorder of Glycosylation, Type if 36
1779 c NNN021 Noonan Syndrome 8 36
1780 FCL049 Focal Hand Dystonia 36
1781 RTN013 Retinal Hemangioblastoma 36
1782 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 36
1783 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 36
1784 P SPS008 Spastic Ataxia 36
1785 OHD005 Ohdo Syndrome, Sbbys Variant 36
1786 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
1787 GPS001 Gapo Syndrome 36
1788 PST063 Postsynaptic Congenital Myasthenic Syndromes 36
1789 c PRK025 Parkinson Disease 10 36
1790 INT082 Intraocular Retinoblastoma 36
1791 INF159 Infantile Sialic Acid Storage Disease 36
1792 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 36
1793 BSL004 Basilar Artery Occlusion 36
1794 c CNR017 Cone-Rod Dystrophy 9 36
1795 STR002 Streptococcal Meningitis 36
1796 SCR035 Sacral Agenesis with Vertebral Anomalies 36
1797 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
1798 c NNN024 Noonan Syndrome 9 36
1799 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
1800 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 36
1801 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 35
1802 ADL053 Adult Astrocytic Tumour 35
1803 PRM056 Primrose Syndrome 35
1804 c CNG379 Congenital Disorder of Glycosylation, Type It 35
1805 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 35
1806 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
1807 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 35
1808 c SPL033 Split-Hand/foot Malformation 6 35
1809 c PRM032 Primary Congenital Glaucoma 35
1810 LGH012 Leigh Syndrome with Leukodystrophy 35
1811 EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 35
1812 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 35
1813 P BNG002 Benign Meningioma 35
1814 CRB026 Cerebellar Astrocytoma 35
1815 MCR001 Microcystic Meningioma 35
1816 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
1817 c MCK033 Meckel Syndrome, Type 4 35
1818 c JVN038 Juvenile Myasthenia Gravis 35
1819 PLY021 Polyradiculopathy 35
1820 SPR006 Sparganosis 35
1821 ANT022 Anterior Cranial Fossa Meningioma 35
1822 PLX001 Plexiform Schwannoma 35
1823 c MTC060 Mitochondrial Dna Depletion Syndrome 9 35
1824 c HRD173 Hereditary Late-Onset Parkinson Disease 35
1825 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
1826 MYT011 Myotonia 34
1827 ANT013 Anterior Spinal Artery Syndrome 34
1828 LST003 Listeria Meningitis 34
1829 FNG004 Fungal Meningitis 34
1830 c LPR022 Leprosy 2 34
1831 ANG009 Angiomatous Meningioma 34
1832 P 3MT007 3-Methylglutaconic Aciduria 34
1833 P SPC019 Specific Language Impairment 34
1834 IND004 Indeterminate Leprosy 34
1835 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 34
1836 SBP002 Subependymal Glioma 34
1837 NDL011 Nodular Ganglioneuroblastoma 34
1838 c EPL128 Epilepsy, Familial Temporal Lobe, 3 34
1839 PDT015 Pediatric Supratentorial Ependymoma 34
1840 SBD001 Subdural Empyema 34
1841 GMS001 Gemistocytic Astrocytoma 34
1842 c KLF004 Kleefstra Syndrome 1 34
1843 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 34
1844 PLC004 Pilocytic Astrocytoma of Cerebellum 34
1845 c INF019 Infectious Anterior Uveitis 34
1846 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 34
1847 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1848 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
1849 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 33
1850 c BNG079 Benign Adult Familial Myoclonic Epilepsy 33
1851 UNL002 Unilateral Retinoblastoma 33
1852 c DYS067 Dystonia 6, Torsion 33
1853 c THY084 Thyrotoxic Periodic Paralysis 1 33
1854 OCL066 Oculogyric Crisis 33
1855 c EPL133 Epilepsy, Juvenile Absence 1 33
1856 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 33
1857 c MCK034 Meckel Syndrome, Type 8 33
1858 KLL014 Kelley-Seegmiller Syndrome 33
1859 HYP047 Hypertropia 33
1860 c MYP079 Myopathy, Myofibrillar, 5 33
1861 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
1862 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 33
1863 CRB081 Cerebellar Ataxia, Cayman Type 33
1864 CHR055 Chordoid Meningioma 33
1865 GBT001 Gaba-Transaminase Deficiency 33
1866 c SCH082 Schizophrenia 5 33
1867 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 33
1868 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1869 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 33
1870 SPT016 Septopreoptic Holoprosencephaly 33
1871 HSD004 Hsd10 Mitochondrial Disease 33
1872 VRT001 Vertebral Artery Occlusion 33
1873 P ATL001 Atelosteogenesis 33
1874 PHS022 Phosphoserine Phosphatase Deficiency 33
1875 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1876 DYS001 Dyskinetic Cerebral Palsy 33
1877 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
1878 c JBR041 Joubert Syndrome 3 33
1879 MCR096 Macrocephaly/autism Syndrome 33
1880 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 33
1881 c JBR025 Joubert Syndrome 17 33
1882 TNY001 Tanycytic Ependymoma 33
1883 P NNS031 Non-Syndromic Intellectual Disability 33
1884 BLC015 Balo Concentric Sclerosis 32
1885 LNG015 Lingual-Facial-Buccal Dyskinesia 32
1886 CLR011 Clear Cell Ependymoma 32
1887 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
1888 c HLP028 Holoprosencephaly 5 32
1889 CHR033 Chordoid Glioma 32
1890 c ALZ062 Alzheimer Disease 19 32
1891 OBS003 Obsessive-Compulsive Personality Disorder 32
1892 ANG050 Angiocentric Glioma 32
1893 CMB020 Combined Saposin Deficiency 32
1894 c CNR013 Cone-Rod Dystrophy 12 32
1895 HMD003 Hemidystonia 32
1896 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
1897 CMP006 Complex Partial Epilepsy 32
1898 CLR018 Clear Cell Meningioma 32
1899 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1900 CLD003 Cold-Induced Sweating Syndrome 32
1901 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 32
1902 SPN340 Spontaneous Intracranial Hypotension 32
1903 PSM001 Psammomatous Meningioma 32
1904 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
1905 MNN024 Meningitis and Encephalitis 31
1906 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
1907 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
1908 P HYP700 Hypomyelinating Leukodystrophy 31
1909 ANS018 Anismus 31
1910 c NNN025 Noonan Syndrome 10 31
1911 c SCH080 Schizophrenia 3 31
1912 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
1913 PRG090 Progressive Relapsing Multiple Sclerosis 31
1914 c MYC083 Myoclonic Epilepsy, Familial Infantile 31
1915 MNN006 Meninges Hemangiopericytoma 31
1916 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 31
1917 CNR001 Coenurosis 31
1918 CRB036 Cerebral Meningioma 31
1919 P ECT002 Ectomesenchymoma 31
1920 c CTS031 Cutis Laxa, Autosomal Dominant 2 31
1921 CRT009 Critical Illness Polyneuropathy 31
1922 c ATS307 Autosomal Recessive Cerebellar Ataxia 31
1923 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 31
1924 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
1925 c MTC059 Mitochondrial Dna Depletion Syndrome 5 31
1926 TKN001 Takenouchi-Kosaki Syndrome 31
1927 HYP048 Hypotropia 31
1928 c THY083 Thyrotoxic Periodic Paralysis 2 31
1929 c ACQ027 Acquired Cutis Laxa 31
1930 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 31
1931 CNJ017 Conjunctival Nevus 31
1932 MCR099 Microlissencephaly 31
1933 c SCK011 Seckel Syndrome 5 31
1934 HRD073 Hereditary Myopathy with Early Respiratory Failure 31
1935 LRG003 Large Cell Medulloblastoma 31
1936 NRN022 Neurenteric Cyst 31
1937 CHR028 Chronic Wasting Disease 31
1938 RBS005 Ribose 5-Phosphate Isomerase Deficiency 31
1939 c MYT027 Myotonia Congenita, Autosomal Dominant 30
1940 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 30
1941 ALZ030 Alazami Syndrome 30
1942 c HLP027 Holoprosencephaly 7 30
1943 c GLY057 Glycogen Storage Disease X 30
1944 c MYP080 Myopathy, Myofibrillar, 4 30
1945 ANS006 Anosognosia 30
1946 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1947 ACT038 Acute Retrobulbar Neuritis 30
1948 P SPS012 Spastic Paraplegia 3a 30
1949 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
1950 CLL010 Cellular Ependymoma 30
1951 SCR001 Secretory Meningioma 30
1952 c SCK010 Seckel Syndrome 4 30
1953 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
1954 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
1955 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 30
1956 OCC011 Occipital Encephalocele 30
1957 AMY003 Amyotrophic Neuralgia 30
1958 c ACR081 Aicardi-Goutieres Syndrome 6 30
1959 OCC005 Occlusion Precerebral Artery 30
1960 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1961 SPR011 Suprasellar Meningioma 30
1962 c MTC088 Mitochondrial Dna Depletion Syndrome 13 30
1963 PRL013 Paralytic Poliomyelitis 30
1964 PRS120 Persistent Idiopathic Facial Pain 30
1965 c DYS139 Dyschromatosis Universalis Hereditaria 3 30
1966 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 30
1967 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 30
1968 MCR183 Microcephaly-Capillary Malformation Syndrome 30
1969 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
1970 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
1971 BRD005 Borderline Leprosy 30
1972 PRL014 Paralytic Squint 30
1973 WTT002 Witteveen-Kolk Syndrome 29
1974 c PRX056 Peroxisome Biogenesis Disorder 11b 29
1975 PLY110 Polymicrogyria, Bilateral Temporooccipital 29
1976 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
1977 P ATX039 Ataxia-Pancytopenia Syndrome 29
1978 PPL013 Papillary Ependymoma 29
1979 HTR001 Heterophyiasis 29
1980 MYC069 Myoclonic-Astastic Epilepsy 29
1981 MYP097 Myopathy with Lactic Acidosis, Hereditary 29
1982 c HRD186 Hereditary Spastic Paraplegia 51 29
1983 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1984 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1985 DST008 Diastematomyelia 29
1986 c ERL012 Early-Onset Glaucoma 29
1987 PPL009 Papillary Craniopharyngioma 29
1988 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1989 FCL003 Facial Hemiatrophy 29
1990 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
1991 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 29
1992 P RTS001 Ritscher-Schinzel Syndrome 29
1993 PRP093 Pierpont Syndrome 29
1994 ACT064 Acute Necrotizing Encephalitis 29
1995 IDM001 Ideomotor Apraxia 29
1996 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 29
1997 c RBN008 Rubinstein-Taybi Syndrome 2 29
1998 c GLY017 Glycogen Storage Disease Ic 29
1999 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 29
2000 c EPS015 Episodic Ataxia, Type 7 29
2001 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
2002 CBB002 Cobb Syndrome 29
2003 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 29
2004 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 29
2005 c JBR014 Joubert Syndrome 9 29
2006 c PRX060 Peroxisome Biogenesis Disorder 5a 29
2007 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 29
2008 MNG007 Manganese Poisoning 29
2009 c NNN020 Noonan Syndrome 7 29
2010 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
2011 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
2012 INT053 Intracranial Vasospasm 28
2013 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
2014 MLG143 Malignant Hyperthermia of Anesthesia 28
2015 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
2016 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
2017 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
2018 P TRC031 Trichorhinophalangeal Syndrome 28
2019 CRB147 Cerebellofaciodental Syndrome 28
2020 c PRX053 Peroxisome Biogenesis Disorder 14b 28
2021 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
2022 DBT081 Diabetic Encephalopathy 28
2023 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
2024 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
2025 c AMY089 Amyotrophic Lateral Sclerosis 7 28
2026 PTC005 Pituicytoma 28
2027 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 28
2028 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
2029 RFL002 Reflex Epilepsy 28
2030 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 28
2031 CRB015 Cerebellar Angioblastoma 28
2032 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
2033 CRB031 Cerebral Arterial Disease 28
2034 c JBR012 Joubert Syndrome 5 28
2035 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 28
2036 ACC003 Accommodative Esotropia 28
2037 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 28
2038 ATY003 Atypical Autism 28
2039 MLD011 Mild Hyperphenylalaninemia 28
2040 P SCP010 Scapuloperoneal Myopathy 28
2041 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 28
2042 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
2043 ADM001 Adamantinous Craniopharyngioma 28
2044 RHM015 Rhombencephalosynapsis 28
2045 EXT009 Extratemporal Epilepsy 28
2046 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 28
2047 PHS014 Phosphoglycerate Kinase 1 Deficiency 28
2048 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 28
2049 OCC008 Occipital Neuralgia 28
2050 MYT003 Myotonic Disease 27
2051 TTT001 Tatton-Brown-Rahman Syndrome 27
2052 c PRX054 Peroxisome Biogenesis Disorder 12a 27
2053 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 27
2054 PSY012 Psychogenic Movement 2