Neuronal Diseases Category (7905 diseases)


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

# Family MCID Name MIFTS
1 NRS003 Neurosyphilis 48
2 c NNS073 Non-Syndromic X-Linked Intellectual Disability 2 18
3 c NNS117 Non-Syndromic X-Linked Intellectual Disability Arx-Related 17
4 c NNS086 Non-Syndromic X-Linked Intellectual Disability 91 16
5 c NNS090 Non-Syndromic X-Linked Intellectual Disability 82 14
6 c NNS085 Non-Syndromic X-Linked Intellectual Disability 90 13
7 c NNS076 Non-Syndromic X-Linked Intellectual Disability 58 13
8 c NNS094 Non-Syndromic X-Linked Intellectual Disability 72 13
9 c NNS080 Non-Syndromic X-Linked Intellectual Disability 89 13
10 c NNS077 Non-Syndromic X-Linked Intellectual Disability 14 13
11 c NNS081 Non-Syndromic X-Linked Intellectual Disability 81 11
12 c NNS084 Non-Syndromic X-Linked Intellectual Disability 77 10
13 c NNS092 Non-Syndromic X-Linked Intellectual Disability 46 10
14 c NNS074 Non-Syndromic X-Linked Intellectual Disability 19 9
15 c NNS078 Non-Syndromic X-Linked Intellectual Disability 45 9
16 c NNS075 Non-Syndromic X-Linked Intellectual Disability 20 8
17 c NNS079 Non-Syndromic X-Linked Intellectual Disability 84 6
18 c NNS091 Non-Syndromic X-Linked Intellectual Disability 88 6
19 NRT001 Neurotic Disorder 57
20 NRF026 Neurofibromatosis, Type Iv, of Riccardi 26
21 BLM002 Bulimia Nervosa 58
22 MRS009 Marsili Syndrome 43
23 c NRP067 Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy 30
24 MLN001 Melanotic Neuroectodermal Tumor 27
25 NRD085 Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures 24
26 c NRN050 Neuronopathy, Distal Hereditary Motor, Type Vc 29
27 NRD118 Neurodevelopmental Disorder with or Without Autism or Seizures 24
28 ANR007 Anorexia Nervosa 61
29 CHR696 Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia 28
30 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
31 OBS002 Obsessive-Compulsive Disorder 67
32 LGS001 Legius Syndrome 58
33 RCT005 Rectum Neuroendocrine Neoplasm 36
34 LRY013 Laryngeal Neuroendocrine Tumor 32
35 DVL031 Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects 28
36 SZR029 Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications 22
37 NRD095 Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities 21
38 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 7
39 c CNT122 Central Diabetes Insipidus 56
40 P DBT005 Diabetes Insipidus 55
41 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
42 ATX010 Ataxia Neuropathy Spectrum 30
43 NRD067 Neurodevelopmental Disorder with or Without Variable Brain Abnormalities 25
44 NRD105 Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities 24
45 ANL010 Anal Neuroendocrine Tumor 18
46 CHL005 Childhood Mediastinal Neurogenic Tumor 6
47 DBT087 Diabetes Insipidus, Neurohypophyseal 57
48 AMY086 Amyotrophy, Hereditary Neuralgic 46
49 CNV002 Conversion Disorder 45
50 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 38
51 HRT037 Heart and Brain Malformation Syndrome 31
52 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 30
53 c NRP068 Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 21
54 P GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 57
55 ERY029 Erythermalgia, Primary 48
56 NSC005 Nescav Syndrome 45
57 DPR002 Depersonalization Disorder 40
58 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 22
59 P NRB001 Neuroblastoma 62
60 DSS008 Disease of Mental Health 53
61 c NRB010 Neuroblastoma 1 41
62 NRG003 Neurogenic Arthropathy 41
63 c 3MT025 3-Methylglutaconic Aciduria, Type Viib 35
64 NRN016 Neuronal Migration Disorders 34
65 SYN175 Syndromic X-Linked Intellectual Disability Lubs Type 34
66 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 34
67 P CRB059 Cerebellar Degeneration 32
68 c NRB015 Neuroblastoma 2 32
69 c PRM015 Primary Cerebellar Degeneration 30
70 ESP009 Esophageal Neuroendocrine Tumor 30
71 BRN049 Brain Tumor, Childhood 28
72 HLP033 Halperin-Birk Syndrome 23
73 NRD145 Neurodevelopmental Disorder, Nonprogressive, with Spasticity and Transient Opisthotonus 23
74 c CHR725 Charcot-Marie-Tooth Disease, Demyelinating, Type 1h 23
75 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 19
76 NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 18
77 c SBC039 Subacute Cerebellar Degeneration 17
78 c LPD015 Lipodystrophy, Familial Partial, Type 2 63
79 P FML012 Familial Partial Lipodystrophy 54
80 MNN028 Mononeuropathy of the Median Nerve, Mild 53
81 c LPD021 Lipodystrophy, Familial Partial, Type 3 52
82 c LPD034 Lipodystrophy, Familial Partial, Type 4 44
83 c LPD019 Lipodystrophy, Partial, Acquired 44
84 P HYP888 Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 41
85 c LPD036 Lipodystrophy, Familial Partial, Type 6 40
86 c LPD040 Lipodystrophy, Familial Partial, Type 1 39
87 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 37
88 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 36
89 c LPD030 Lipodystrophy, Familial Partial, Type 5 36
90 NRD108 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 32
91 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 30
92 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 28
93 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 28
94 c LPD044 Lipodystrophy, Familial Partial, Type 7 27
95 NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 26
96 c AKT001 Akt2-Related Familial Partial Lipodystrophy 16
97 WRN002 Wernicke-Korsakoff Syndrome 51
98 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
99 ABC001 Abcd Syndrome 39
100 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 36
101 BRN142 Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis 29
102 c NRB014 Neuroblastoma 3 28
103 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 28
104 46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 28
105 ART164 Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect 26
106 NRD115 Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities 25
107 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 24
108 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 24
109 NRD061 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 24
110 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 23
111 NRD136 Neurodevelopmental Disorder with Seizures and Brain Abnormalities 20
112 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 19
113 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 19
114 NRD111 Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy 19
115 KRK002 Karak Syndrome 18
116 CNG458 Congenital Abducens Nerve Palsy 9
117 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
118 c CFF010 Coffin-Siris Syndrome 3 38
119 KSK002 Kosaki Overgrowth Syndrome 36
120 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 34
121 NRT011 Neurotrophic Keratopathy 33
122 AMY005 Amyloid Neuropathy 30
123 NRD059 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 28
124 NRD081 Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 27
125 NRD099 Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity 25
126 NRD092 Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis 24
127 NRD073 Neurodevelopmental Disorder with Visual Defects and Brain Anomalies 24
128 NRD135 Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities 24
129 MYS083 Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant 23
130 CHR639 Chromosome Xp11.22 Duplication Syndrome 23
131 NRD112 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 23
132 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
133 INT391 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 22
134 ECT113 Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies 22
135 HNG004 Hengel-Maroofian-Schols Syndrome 21
136 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
137 NRD113 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 21
138 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 21
139 c NNS089 Non-Syndromic X-Linked Intellectual Disability 30 21
140 DVL130 Developmental Delay with Variable Neurologic and Brain Abnormalities 21
141 END088 Endove Syndrome, Limb-Brain Type 20
142 NRD110 Neurodevelopmental Disorder with Seizures and Brain Atrophy 19
143 c NRN053 Neuronopathy, Distal Hereditary Motor, Type X 12
144 BNP001 Bone Peripheral Neuroepithelioma 12
145 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 11
146 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
147 CLS051 Classic Neuroendocrine Tumor of Appendix 7
148 SPN020 Spondylosis 49
149 MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 44
150 c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 37
151 KHR001 Kahrizi Syndrome 34
152 ALC002 Alcohol-Related Neurodevelopmental Disorder 32
153 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 31
154 c HYP891 Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 30
155 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 30
156 EMB015 Embryonal Tumor with Multilayered Rosettes 29
157 NRF016 Neurofibromatosis, Familial Spinal 28
158 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 27
159 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 27
160 PRF003 Piriformis Syndrome 26
161 GNT184 Genitourinary and/or Brain Malformation Syndrome 26
162 c SPN432 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 25
163 NRD107 Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia 25
164 MGR035 Migraine with Brainstem Aura 25
165 CHR655 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 24
166 c CHR724 Charcot-Marie-Tooth Disease, Demyelinating, Type 1i 24
167 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 24
168 NRD093 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 24
169 ART166 Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum 24
170 c NNS112 Non-Syndromic X-Linked Intellectual Disability 21 24
171 NRD089 Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies 23
172 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
173 NRD123 Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia 22
174 NRD166 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities 21
175 NRD070 Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies 20
176 NRD160 Neurodevelopmental Disorder with Epilepsy and Brain Atrophy 19
177 c CHR135 Charcot-Marie-Tooth Disease Type 2a 19
178 NRD164 Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities 19
179 NRD161 Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy 18
180 SBN004 Sabinas Brittle Hair Syndrome 16
181 NRD173 Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities 16
182 KFF001 Kifafa Seizure Disorder 15
183 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 15
184 MDS014 Mediastinum Neuroblastoma 5
185 P ART005 Arteriovenous Malformation 65
186 P CTR177 Citrullinemia, Type Ii, Adult-Onset 59
187 DSN001 De Sanctis-Cacchione Syndrome 50
188 HYP265 Hypotonia 46
189 c CFF009 Coffin-Siris Syndrome 4 43
190 P CHR342 Chiari Malformation 42
191 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 39
192 MLT178 Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked 38
193 c CFF007 Coffin-Siris Syndrome 2 38
194 HYD065 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 34
195 c CFF014 Coffin-Siris Syndrome 9 33
196 DVL111 Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy 28
197 IMP020 Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects 28
198 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 27
199 ILL008 Ileal Neuroendocrine Tumor 27
200 c SPN451 Spinocerebellar Ataxia, Autosomal Recessive 29 27
201 c HYP889 Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 26
202 PRM205 Primary Hepatic Neuroendocrine Carcinoma 26
203 NRD096 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 26
204 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 26
205 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 24
206 LKN030 Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome 24
207 HTT003 Hiatt-Neu-Cooper Neurodevelopmental Syndrome 23
208 NRD079 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 23
209 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 22
210 c 3MT026 3-Methylglutaconic Aciduria, Type Viia 22
211 c CHR715 Charcot-Marie-Tooth Disease, Axonal, Type 2gg 22
212 NRM024 Neuromuscular Oculoauditory Syndrome 22
213 NRD097 Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 22
214 c CHR714 Charcot-Marie-Tooth Disease, Axonal, Type 2ff 20
215 SPN185 Spinal Cord Infarction 20
216 NRD127 Neurodevelopmental Disorder with Infantile Epileptic Spasms 19
217 BRS005 Breast Neuroendocrine Neoplasm 19
218 c ALP114 Alopecia-Intellectual Disability Syndrome 2 18
219 CNG362 Congenital Trochlear Nerve Palsy 17
220 CNG457 Congenital Oculomotor Nerve Palsy 16
221 CLP007 Clpb Deficiency 15
222 BRN069 Brain and Spinal Tumors 11
223 FNC068 Functional Neurologic Disorder 10
224 c ADL083 Adult-Onset Citrullinemia Type I 10
225 c RRR004 Rare Arteriovenous Malformation 10
226 c CL4005 Col4a1-Related Brain Small-Vessel Disease 9
227 MBS003 Moebius Axonal Neuropathy Hypogonadism 4
228 HMR039 Hemorrhage, Intracerebral 60
229 P SYP003 Syphilis 60
230 PST028 Post-Traumatic Stress Disorder 59
231 APH002 Aphasia 55
232 TRD006 Tardive Dyskinesia 53
233 APR001 Apraxia 52
234 GLM045 Glioma 51
235 PYR037 Pyruvate Carboxylase Deficiency 48
236 c CNG033 Congenital Syphilis 42
237 ADS004 Aids Dementia Complex 41
238 c CRN277 Craniosynostosis 2 38
239 MHV001 Mahvash Disease 38
240 CRB090 Cerebral Hypoxia 38
241 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 37
242 c SCN006 Secondary Syphilis 37
243 HYP264 Hypertonia 35
244 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 34
245 c PRM022 Primary Syphilis 32
246 SYN178 Syndromic X-Linked Intellectual Disability Claes-Jensen Type 32
247 c LTC001 Late Congenital Syphilis 31
248 c DNC007 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 30
249 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 29
250 c ERL002 Early Congenital Syphilis 28
251 PRS017 Prostate Neuroendocrine Neoplasm 27
252 P NRD134 Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies 27
253 SDM007 Sodium-Dependent Multivitamin Transporter Deficiency 27
254 NRD094 Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation 25
255 SRB001 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy 25
256 PRP102 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 25
257 CRB227 Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects 25
258 NRD088 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 25
259 NRD116 Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy 24
260 MYC075 Myoclonus, Intractable, Neonatal 24
261 CHL189 Chilton-Okur-Chung Neurodevelopmental Syndrome 24
262 NRD140 Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures 23
263 NRD119 Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism 23
264 NRH002 Neurohypophysis Granular Cell Tumor 23
265 c CNT068 Central Pain Syndrome 22
266 INT568 Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly 22
267 NRD131 Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum 22
268 c CHR716 Charcot-Marie-Tooth Disease, Axonal, Type 2hh 22
269 NRD122 Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia 21
270 c NRD152 Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies 21
271 P DNC006 Diencephalic-Mesencephalic Junction Dysplasia 20
272 NRD126 Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction 20
273 CLN014 Colon Neuroendocrine Neoplasm 20
274 VCL007 Vocal Cord Paralysis and Ptosis 19
275 NRD146 Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis 19
276 P MNT312 Mental Health Wellness 1 18
277 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 17
278 OVR004 Ovary Neuroendocrine Neoplasm 16
279 DPB002 Deep Brain Stimulation for Movement Disorders 16
280 c PPP004 Ppp2r1a-Related Neurodevelopmental Disorder 16
281 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 15
282 DBT109 Diabetes Insipidus, Neurohypophyseal, X-Linked 15
283 PRN063 Peroneal Nerve, Accessory Deep 15
284 c SH3001 Sh3tc2-Related Hereditary Motor and Sensory Neuropathy 15
285 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 15
286 c NRB012 Neuroblastoma 5 15
287 c NRB016 Neuroblastoma 7 14
288 c NNS123 Non-Syndromic X-Linked Intellectual Disability 97 14
289 HLL013 Hall-Riggs Mental Retardation Syndrome 14
290 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 13
291 c NRB011 Neuroblastoma 4 13
292 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 13
293 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 12
294 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 12
295 SCH022 Schimke X-Linked Mental Retardation Syndrome 12
296 c NRB013 Neuroblastoma 6 12
297 RRR001 Rere-Related Disorders 12
298 CLL024 Colloid Cysts of Third Ventricle 11
299 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 11
300 c MNT313 Mental Health Wellness 2 11
301 TCP003 Tecpr2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability 10
302 ULN022 Ulnar Hypoplasia with Mental Retardation 10
303 MFN001 Mfn2 Hereditary Motor and Sensory Neuropathy 10
304 EFV001 Efavirenz, Poor Metabolism of 9
305 PRP096 Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 9
306 SFT001 Soft Tissue Peripheral Neuroepithelioma 9
307 c MCR373 Mecr-Related Neurologic Disorder 9
308 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 8
309 P ATS499 Autosomal Dominant Familial Visceral Neuropathy 8
310 GJB008 Gjb1 Disorders: Charcot-Marie-Tooth Neuropathy and Central Nervous System Phenotypes 8
311 SYN181 Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type 6
312 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 6
313 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 5
314 ARN002 Arnold Stickler Bourne Syndrome 4
315 NRL041 Neurological Sequelae of Lupus 4
316 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 4
317 P NRL026 Neurological Channelopathy of the Central Nervous System Due to a Genetic Chloride Channel Defect 2
318 c NRL032 Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect 2
319 c NRL036 Neurological Channelopathy of the Central Nervous System Due to a Genetic Calcium Channel Defect 2
320 c NRL034 Neurological Channelopathy of the Central Nervous System Due to a Genetic Gaba Receptor Defect 2
321 c NRL037 Neurological Channelopathy of the Central Nervous System Due to a Genetic Potassium Channel Defect 2
322 c NRL033 Neurological Channelopathy of the Central Nervous System Due to a Genetic Acetylcholine Receptor Defect 2
323 c NRL035 Neurological Channelopathy of the Central Nervous System Due to a Genetic Sodium Channel Defect 2
324 GNT173 Genetic Neurological Channelopathy of the Central Nervous System 2
325 P CRB048 Cerebral Cavernous Malformations 66
326 c MCP047 Mucopolysaccharidosis, Type Iva 65
327 PTS001 Patau Syndrome 57
328 OCL069 Ocular Motor Apraxia 48
329 HYP648 Hypertension and Brachydactyly Syndrome 45
330 MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 37
331 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 34
332 P RJB003 Rajab Interstitial Lung Disease with Brain Calcifications 1 33
333 MGC007 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 32
334 P TSS006 Tessadori-Van Haaften Neurodevelopmental Syndrome 1 32
335 c HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 32
336 P ALP116 Alopecia-Intellectual Disability Syndrome 4 29
337 NRD156 Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies 28
338 c LKD030 Leukodystrophy, Hypomyelinating, 17 28
339 P HYP821 Hypermanganesemia with Dystonia 27
340 SPN424 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 27
341 c BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 26
342 MRB008 Marbach-Schaaf Neurodevelopmental Syndrome 24
343 NRD068 Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia 24
344 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
345 NRD062 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 24
346 c CRB226 Cerebral Cavernous Malformations 4 23
347 c RJB004 Rajab Interstitial Lung Disease with Brain Calcifications 2 23
348 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 23
349 ILL003 Illum Syndrome 23
350 CLP002 Colpocephaly 23
351 DNT053 Dentici-Novelli Neurodevelopmental Syndrome 22
352 NRD154 Neurodegeneration, Childhood-Onset, with Progressive Microcephaly 22
353 MCR371 Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 22
354 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 22
355 HRS002 Hersh Podruch Weisskopk Syndrome 21
356 NRD162 Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies 21
357 NRD078 Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity 21
358 NRP070 Neuropathy, Hereditary Motor, with Myopathic Features 21
359 NRC024 Neurocardiofaciodigital Syndrome 20
360 c VSC070 Visceral Neuropathy, Familial, 2, Autosomal Recessive 20
361 NRD159 Neurodevelopmental Disorder with Dystonia and Seizures 20
362 DWR024 Dworschak-Punetha Neurodevelopmental Syndrome 19
363 NRD158 Neurodevelopmental Disorder with Language Delay and Seizures 18
364 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 17
365 c CHR732 Charcot-Marie-Tooth Disease, Demyelinating, Type 1j 17
366 NRD174 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 17
367 NRD175 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 16
368 SPR032 Superficial Siderosis of the Central Nervous System 15
369 NRD176 Neurodegeneration, Childhood-Onset, with Multisystem Involvement Due to Mitochondrial Dysfunction 15
370 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 15
371 SCL044 Scalp Syndrome 14
372 RCR030 Recurrent Idiopathic Neuroretinitis 12
373 MDD017 Middle Ear Neuroendocrine Tumor 12
374 NRL040 Neurological Complications of Lyme Disease 6
375 FBX004 Fbxw7 Neurodevelopmental Syndrome 3
376 LBR037 Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns 3
377 P CRN037 Craniosynostosis 66
378 ASP004 Asphyxia Neonatorum 54
379 c CRN278 Craniosynostosis 1 53
380 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 52
381 MNN020 Meningococcal Infection 51
382 PTT041 Pituitary Stalk Interruption Syndrome 49
383 P CHR345 Chronic Pain 48
384 LRN003 Learning Disability 45
385 MXD026 Mixed Glioma 45
386 LRG014 Large Cell Neuroendocrine Carcinoma 38
387 CMB041 Combined Oxidative Phosphorylation Deficiency 13 38
388 PRS063 Paresthesia 38
389 SWL001 Swallowing Disorders 37
390 P OCL076 Oculopharyngodistal Myopathy 1 36
391 P DYS021 Dysautonomia 36
392 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
393 CMB048 Combined Oxidative Phosphorylation Deficiency 15 35
394 P CRB088 Cerebral Atrophy 34
395 CRT033 Corticobasal Degeneration 33
396 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 32
397 c CRN281 Craniosynostosis 7 32
398 BRN137 Bronchial Neuroendocrine Tumor 31
399 FTD001 Foot Drop 30
400 c CRN217 Craniosynostosis 3 28
401 c CRN221 Craniosynostosis 4 28
402 c PRV018 Periventricular Nodular Heterotopia 7 27
403 CMB002 Combat Disorder 27
404 LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 27
405 LKN017 Leukoencephalopathy with Ataxia 27
406 WCK004 Wieacker-Wolff Syndrome, Female-Restricted 26
407 c PRV022 Periventricular Nodular Heterotopia 9 26
408 SHK002 Shukla-Vernon Syndrome 26
409 NRD077 Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies 26
410 c CRN256 Craniosynostosis 6 25
411 c MCR382 Microcephaly 26, Primary, Autosomal Dominant 25
412 c BSL049 Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive 25
413 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 24
414 NRD138 Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures 24
415 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 24
416 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 24
417 SYN176 Syndromic X-Linked Intellectual Disability Hedera Type 24
418 c SPS042 Spastic Paraplegia 9 24
419 STR112 Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis 24
420 MTC229 Mitochondrial Complex Ii Deficiency, Nuclear Type 2 23
421 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 23
422 c AMY110 Amyotrophic Lateral Sclerosis 24 23
423 c SPN452 Spinocerebellar Ataxia, Autosomal Recessive 30 23
424 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 23
425 KYB001 Kaya-Barakat-Masson Syndrome 23
426 c OCL084 Oculopharyngodistal Myopathy 3 23
427 ATX050 Ataxia, Intention Tremor, and Hypotonia Syndrome, Childhood-Onset 22
428 c PRV021 Periventricular Nodular Heterotopia 8 22
429 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 22
430 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 22
431 PRN072 Parenti-Mignot Neurodevelopmental Syndrome 22
432 c SPN459 Spinocerebellar Ataxia, Autosomal Recessive 32 22
433 AMY018 Amyotonia Congenita 22
434 THY108 Thymic Neuroendocrine Tumor 22
435 BSL043 Basal Ganglia Calcification, Idiopathic, Childhood-Onset 21
436 LCM001 Li-Campeau Syndrome 21
437 c LKD034 Leukodystrophy, Hypomyelinating, 21 21
438 c CRB140 Cerebral Palsy, Spastic Quadriplegic, 2 21
439 CMB101 Combined Oxidative Phosphorylation Deficiency 45 21
440 c OCL085 Oculopharyngodistal Myopathy 4 21
441 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 20
442 MTC224 Mitochondrial Complex Iv Deficiency, Nuclear Type 17 20
443 CNT067 Central Cord Syndrome 20
444 c AMY112 Amyotrophic Lateral Sclerosis 25 20
445 NRD076 Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly 20
446 c EPL257 Epilepsy, Progressive Myoclonic, 12 20
447 c OCL080 Oculopharyngodistal Myopathy 2 20
448 CLR148 Ciliary Dyskinesia, Primary, 47, and Lissencephaly 19
449 BBB001 Bobble-Head Doll Syndrome 19
450 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
451 ABS003 Absence of Septum Pellucidum 18
452 c CHR731 Charcot-Marie-Tooth Disease, Axonal, Type 2ii 18
453 BRS024 Breast Large Cell Neuroendocrine Carcinoma 18
454 NRD163 Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies 18
455 c HYD071 Hydrocephalus, Normal-Pressure, 1 18
456 PRP110 Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive 17
457 RTR023 Retroperitoneal Neuroblastoma 17
458 ENC073 Encephalitis, Acute, Infection -Induced 11 17
459 GLL034 Gallbladder Neuroendocrine Tumor 16
460 c ALP115 Alopecia-Intellectual Disability Syndrome 3 16
461 CCH008 Cochlear Nerve Deficiency 16
462 c DYS194 Dysautonomia-Like Disorder 15
463 NRD179 Neurodevelopmental Disorder with Speech Impairment and with or Without Seizures 14
464 INF124 Infundibulo-Neurohypophysitis 14
465 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
466 MCH015 Machado-Joseph Disease and Spinocerebellar Ataxia 9
467 SYN180 Syndromic X-Linked Intellectual Disability Shrimpton Type 9
468 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 8
469 LNR018 Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies 8
470 c PPP001 Ppp2r5d-Related Intellectual Disability 8
471 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
472 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 7
473 c CRN093 Craniosynostosis Autosomal Dominant 4
474 NRB018 Neurobehavioral Disorder with Prenatal Alcohol Exposure 3
475 NRL011 Neurological Consequences of Cytomegalovirus Infection 3
476 P ATS364 Autism 74
477 c ATS007 Autism Spectrum Disorder 70
478 P ZLL001 Zellweger Syndrome 64
479 c NMN014 Niemann-Pick Disease, Type C2 53
480 P NLX004 Neu-Laxova Syndrome 1 51
481 LNG116 Long Covid 49
482 TRN022 Transcobalamin Ii Deficiency 48
483 c ZLL011 Zellweger Spectrum Disorder 47
484 LPD009 Lipid Storage Disease 46
485 P PLL002 Pellagra 46
486 P BRB001 Beriberi 45
487 P CRN321 Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects 45
488 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 44
489 c CRN320 Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects 43
490 c NLX003 Neu-Laxova Syndrome 2 43
491 MLY001 Molybdenum Cofactor Deficiency 41
492 OHT001 Ohtahara Syndrome 41
493 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 40
494 ENC065 Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 40
495 P PRS013 Prosopagnosia 39
496 P HYP263 Hypersomnia 37
497 P CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 36
498 P HRD217 Hereditary Optic Neuropathy 36
499 SYN177 Syndromic X-Linked Intellectual Disability Najm Type 35
500 c SPN095 Spinocerebellar Ataxia 19 35
501 MLD017 Mal De Debarquement Syndrome 34
502 PRN039 Paraneoplastic Syndromes 33
503 c ACR084 Aicardi-Goutieres Syndrome 7 33
504 DYS003 Dysgraphia 33
505 CMB078 Combined Oxidative Phosphorylation Deficiency 32 33
506 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 32
507 c RCR002 Recurrent Hypersomnia 32
508 NRG001 Neurogenic Bowel 32
509 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 32
510 GRN006 Granulomatous Angiitis 32
511 c ADL008 Adult Oligodendroglioma 32
512 CHR718 Chromosome 1p36 Deletion Syndrome, Distal 29
513 c SVR109 Severe Congenital Neutropenia 8 28
514 GNT004 Gnathomiasis 28
515 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
516 c PRS058 Prosopagnosia, Hereditary 28
517 TCH005 Tièche-Jadassohn Nevus 28
518 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 27
519 c ENC060 Encephalopathy, Acute, Infection-Induced 1 27
520 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 26
521 c LKD031 Leukodystrophy, Hypomyelinating, 18 26
522 PRV020 Periventricular Heterotopia with Microcephaly, Autosomal Recessive 26
523 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
524 NZN001 Nizon-Isidor Syndrome 26
525 c CRP037 Carpal Tunnel Syndrome 2 26
526 DDN005 Duodenal Somatostatinoma 26
527 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 26
528 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
529 DRG004 Drug-Induced Mental Disorder 26
530 TCK002 Tick Paralysis 25
531 RDT018 Radio-Tartaglia Syndrome 25
532 LSS039 Lissencephaly 6 with Microcephaly 25
533 c LKD029 Leukodystrophy, Hypomyelinating, 16 25
534 c ATS370 Autism 3 25
535 c HRD156 Hereditary Central Diabetes Insipidus 25
536 c NNS087 Non-Syndromic X-Linked Intellectual Disability 93 25
537 MYC030 Myoclonic Epilepsy Myopathy Sensory Ataxia 24
538 HLP032 Holoprosencephaly 13, X-Linked 24
539 CHL150 Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter 24
540 c ACR123 Aicardi-Goutieres Syndrome 8 24
541 NRP027 Neuropathy, Painful 23
542 c SPS230 Spastic Paraplegia Type 49 23
543 c ENC037 Encephalopathy, Acute, Infection-Induced 6 23
544 c EPL254 Epilepsy, Progressive Myoclonic, 11 23
545 c LKD035 Leukodystrophy, Hypomyelinating, 22 23
546 P NNP004 Nonphotosensitive Trichothiodystrophy 23
547 P HYP893 Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 23
548 MGL040 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Impaired Intellectual Development 23
549 c HYP892 Hypomagnesemia, Seizures, and Impaired Intellectual Development 1 23
550 c ACQ034 Acquired Central Diabetes Insipidus 23
551 DDN028 Duodenal Neuroendocrine Tumor 23
552 c MLT124 Multiple Sclerosis 5 23
553 c CRN216 Craniosynostosis 5 23
554 SHK001 Shaken Baby Syndrome 23
555 c DYS216 Dystonia 32 23
556 c JBR051 Joubert Syndrome 39 23
557 c ATS376 Autism 15 22
558 c ATS474 Autism 20 22
559 c ATS369 Autism 8 22
560 HYD066 Hydrocephalus, Congenital, 3, with Brain Anomalies 22
561 LGH020 Li-Ghorbani-Weisz-Hubshman Syndrome 22
562 c JBR052 Joubert Syndrome 40 22
563 c NNS088 Non-Syndromic X-Linked Intellectual Disability 63 22
564 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 22
565 c ENC063 Encephalopathy, Acute, Infection-Induced 7 22
566 MTC220 Mitochondrial Complex Iv Deficiency, Nuclear Type 12 21
567 MNN022 Meningoencephalocele 21
568 ACT235 Acute Macular Neuroretinopathy 21
569 SPN086 Spinal Intradural Arachnoid Cysts 21
570 c ENC062 Encephalopathy, Acute, Infection-Induced 5 21
571 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 21
572 MTC223 Mitochondrial Complex Iv Deficiency, Nuclear Type 16 20
573 c ATS378 Autism 17 20
574 LSC005 Luo-Schoch-Yamamoto Syndrome 20
575 URM001 Uremic Neuropathy 20
576 GNT023 Gnathostoma Infection 20
577 c ATS377 Autism 16 20
578 c NNS093 Non-Syndromic X-Linked Intellectual Disability 41 19
579 MTC228 Mitochondrial Complex Iv Deficiency, Nuclear Type 21 18
580 NRD055 Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 18
581 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 18
582 c ATS371 Autism 6 18
583 ATM074 Autoimmune Autonomic Ganglionopathy 18
584 c NNS119 Non-Syndromic X-Linked Intellectual Disability 96 18
585 JJN001 Jejunal Somatostatinoma 18
586 c PLL014 Pellagra-Like Syndrome 17
587 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
588 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 17
589 IDP022 Idiopathic Spinal Cord Herniation 17
590 c WST009 West Nile Virus Encephalitis 17
591 CRB053 Cerebellar Agenesis 17
592 c ATS170 Autism 19 16
593 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 16
594 c ATS372 Autism 7 16
595 SPS218 Spastic Diplegia and Mental Retardation 15
596 c ATS374 Autism 12 15
597 NRD172 Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss 15
598 LKD038 Leukodystrophy, Childhood-Onset, Remitting 15
599 CTS046 Cutis Verticis Gyrata and Mental Retardation 15
600 SNR002 Sener Syndrome 15
601 c ATS171 Autism 9 15
602 c ATS172 Autism 10 15
603 c ATS373 Autism 11 14
604 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
605 c ATS375 Autism 13 14
606 KLM001 Klumpke Paralysis 14
607 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
608 CRM012 Cree Mental Retardation Syndrome 14
609 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 13
610 P ATP015 Atp1a3-Related Neurologic Disorders 13
611 OCL024 Ocular Neuromyotonia 13
612 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 13
613 GNT082 Genetic Neuromuscular Disease 13
614 NRN032 Neuroendocrine Tumor of Anal Canal 12
615 MNT030 Mental Retardation Syndrome, Belgian Type 12
616 c NNS122 Non-Syndromic X-Linked Intellectual Disability 98 12
617 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 12
618 NTR055 Ntrk1 Congenital Insensitivity to Pain with Anhidrosis 12
619 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
620 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 12
621 NRL021 Neurologic Disease, Infantile Multisystem, with Osseous Fragility 12
622 CHR580 Choroid Plexus Calcification and Mental Retardation 12
623 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12
624 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 11
625 MDN009 Median-Ulnar Nerve Communications 11
626 SPN388 Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 11
627 c CTD001 Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy 11
628 GNT083 Genetic Neurodegenerative Disease 11
629 P FTL014 Fetal Brain Disruption Sequence 11
630 MNT255 Mental Retardation and Psoriasis 11
631 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
632 MND028 Mandibulofacial Dysostosis with Mental Retardation 11
633 OPH019 Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 11
634 NRP069 Neuro-Ophthalmological Disease 11
635 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 11
636 NRP061 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia 10
637 LRY052 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 10
638 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 10
639 LCL011 Localized Hypertrophic Neuropathy 10
640 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
641 c DDX004 Ddx3x-Related Neurodevelopmental Disorder 10
642 c NNS130 Non-Syndromic X-Linked Intellectual Disability 23 10
643 MNT299 Mental and Growth Retardation with Amblyopia 10
644 ELC003 Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus 10
645 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 9
646 P DCT005 Dctn1-Related Neurodegeneration 9
647 CHD011 Chd8-Related Neurodevelopmental Disorder with Overgrowth 9
648 LNT009 Lentiginosis, Centrofacial Neurodysraphic 9
649 c NNS128 Non-Syndromic X-Linked Intellectual Disability 73 9
650 EBF001 Ebf3 Neurodevelopmental Disorder 9
651 SPT025 Sptbn4 Disorder 9
652 STD002 Setd2 Neurodevelopmental Disorders 9
653 CHR628 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 9
654 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
655 P CRN291 Cranial Nerves, Recurrent Paresis of 9
656 CHD008 Chd4 Neurodevelopmental Disorder 9
657 HYP778 Hypertrophic Neuropathy and Cataract 9
658 MNT250 Mental Retardation with Spastic Paraplegia 8
659 MDF003 Modifier, X-Linked, for Neurofunctional Defects 8
660 c SVR017 Severe Infantile Axonal Neuropathy 8
661 PPP003 Ppp1r12a-Related Urogenital and/or Brain Malformation Syndrome 8
662 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 8
663 HYP797 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses 8
664 GRS015 Gars1-Associated Axonal Neuropathy 8
665 BSC007 Bscl2-Related Neurologic Disorders / Seipinopathy 8
666 CRT047 Creatine Kinase, Brain Type, Ectopic Expression of 7
667 SCN086 Scn9a Neuropathic Pain Syndromes 7
668 GNT121 Genetic Cerebral Malformation 7
669 c GNR049 Gan-Related Neurodegeneration 7
670 c CRN290 Cranial Nerves, Congenital Paresis of 7
671 ALK018 Alk-Related Neuroblastic Tumor Susceptibility 7
672 c INF044 Infantile Axonal Neuropathy 7
673 NRV014 Neurovisceral Storage Disease with Curvilinear Bodies 7
674 c RRD010 Rare Disease with Autism 7
675 SPN453 Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability 7
676 c CLC065 Clcn4-Related Neurodevelopmental Disorder 7
677 P BNG037 Benign Angiitis of the Central Nervous System 6
678 c NNS120 Non-Syndromic X-Linked Intellectual Disability 105 6
679 BYL002 Boylan Dew Greco Syndrome 6
680 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
681 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 6
682 NRP056 Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive 6
683 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 6
684 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
685 SYN121 Syndromic Hereditary Optic Neuropathy 5
686 RRP021 Rare Ophthalmic Disorder with Cranial Nerve Involvement 5
687 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
688 MSC208 Mosaic Legius Syndrome 5
689 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 5
690 ATS441 Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs 5
691 GNT081 Genetic Central Nervous System Malformation 5
692 DRC003 Drachtman Weinblatt Sitarz Syndrome 5
693 GNT187 Genetic Syndrome with a Central Nervous System Malformation As a Major Feature 4
694 GLT033 Glutamic Acid Decarboxylase, Brain, Membrane Form 4
695 KZN001 Kuzniecky Andermann Syndrome 4
696 GNT058 Genetic Neuro-Ophthalmological Disease 4
697 c RRT018 Rare Trochlear Nerve Disorder 4
698 SYN094 Syndromic X-Linked Mental Retardation Hough Type 4
699 DSR086 Disorder with Optic Nerve Compression 4
700 RRC030 Rare Oculomotor Nerve Disorder 4
701 GST109 Gastroenteric Neuroendocrine Neoplasm 3
702 GNT120 Genetic Non-Syndromic Central Nervous System Malformation 3
703 DSR082 Disorder of Neurotransmitter Metabolism and Transport 3
704 GNT080 Genetic Central Nervous System and Retinal Vascular Disease 3
705 GNT153 Genetic Neurovascular Malformation 3
706 ATX012 Ataxias and Cerebellar or Spinocerebellar Degeneration 3
707 CRN091 Craniosynostosis Alopecia Brain Defect 3
708 EPD081 Epidermoid Brain Cyst 3
709 c MSC195 Miscellaneous Movement Disorder Due to Genetic Neurodegenerative Disease 3
710 NRN048 Neuroendocrine Tumor with Other Location 3
711 DSR018 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement 3
712 DSR017 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement 3
713 RRG067 Rare Genetic Ophthalmic Disorder with Cranial Nerve Involvement 3
714 GNT110 Genetic Neurodegenerative Disease with Dementia 3
715 GNT115 Genetic Neuroendocrine Tumor 2
716 KF1004 Kif1a-Associated Neurological Disorder 2
717 QLT010 Qualitative or Quantitative Protein Defects in Neuromuscular Diseases 2
718 LMN009 Laminopathy with Peripheral Neuropathy 2
719 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 2
720 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
721 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 2
722 CRN305 Corneal Neuropathic Disease 1
723 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 1
724 NDM001 Nedamss Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
725 FCL024 Focal or Multifocal Malformations in Neuronal Migration 1
726 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 1
727 NRN007 Neuronal Interstitial Dysplasia 1
728 P ATX030 Ataxia-Telangiectasia 81
729 P PRK057 Parkinson Disease, Late-Onset 81
730 P MLT020 Multiple Sclerosis 81
731 P RTT002 Rett Syndrome 78
732 P SCH015 Schizophrenia 76
733 SCH036 Scheie Syndrome 75
734 ADR007 Adrenoleukodystrophy 75
735 MYL069 Myeloma, Multiple 75
736 c TBR025 Tuberous Sclerosis 1 74
737 c MSM022 Mismatch Repair Cancer Syndrome 1 73
738 P LFR001 Li-Fraumeni Syndrome 73
739 P HNT016 Huntington Disease 72
740 c GLY008 Glycogen Storage Disease Ii 72
741 P MTC003 Metachromatic Leukodystrophy 72
742 P FRG001 Fragile X Syndrome 69
743 P DYS007 Dyskeratosis Congenita 69
744 LGH007 Leigh Syndrome 69
745 P SHW006 Shwachman-Diamond Syndrome 1 68
746 P TBR001 Tuberous Sclerosis 68
747 c MGR028 Migraine with or Without Aura 1 67
748 P MYP004 Myopathy 67
749 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 67
750 LWC002 Lowe Oculocerebrorenal Syndrome 67
751 P GLC113 Galactosemia I 66
752 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 66
753 GLS018 Glass Syndrome 66
754 c MCL013 Mucolipidosis Iv 66
755 c EPS035 Episodic Ataxia, Type 2 66
756 c GM1007 Gm1 Gangliosidosis 66
757 c GLY060 Glycogen Storage Disease Ia 66
758 SPT006 Septooptic Dysplasia 65
759 c MCP049 Mucopolysaccharidosis, Type Vii 65
760 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 64
761 APR006 Apert Syndrome 64
762 FCL009 Focal Dermal Hypoplasia 64
763 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
764 CHN016 Cohen Syndrome 64
765 TNG002 Tangier Disease 64
766 c TBR026 Tuberous Sclerosis 2 63
767 NNN026 Noonan Syndrome with Multiple Lentigines 63
768 P HYD006 Hydrocephalus 63
769 WLL001 Williams-Beuren Syndrome 63
770 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
771 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 62
772 c NMN016 Niemann-Pick Disease, Type B 62
773 HRP004 Herpes Zoster 62
774 P ANR048 Aniridia 1 62
775 P PLY017 Polyarteritis Nodosa 62
776 CNT105 Central Core Disease of Muscle 62
777 TRG002 Trigeminal Neuralgia 61
778 GLT035 Glutaric Acidemia I 61
779 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 61
780 P GLL022 Guillain-Barre Syndrome 61
781 ERL001 Early Myoclonic Encephalopathy 61
782 c OTP007 Otopalatodigital Syndrome, Type Ii 61
783 P PTT014 Pitt-Hopkins Syndrome 60
784 CYS005 Cysticercosis 60
785 WVR001 Weaver Syndrome 60
786 c GLY005 Glycogen Storage Disease Vi 59
787 P GLY013 Glycogen Storage Disease 59
788 P MYM013 Moyamoya Disease 1 59
789 OCC006 Occipital Horn Syndrome 59
790 P LKD001 Leukodystrophy 59
791 c EPS042 Episodic Ataxia, Type 1 58
792 PMS001 Poems Syndrome 58
793 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 58
794 SPN186 Spinal Cord Injury 57
795 P CTS001 Cutis Laxa 57
796 LNN001 Lennox-Gastaut Syndrome 57
797 SJG002 Sjogren-Larsson Syndrome 57
798 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
799 c CNT016 Central Retinal Vein Occlusion 57
800 P PRK039 Parkinsonism 57
801 c MCL046 Mucolipidosis Iii Alpha/beta 57
802 GRS011 Gerstmann-Straussler Disease 56
803 RLP002 Relapsing-Remitting Multiple Sclerosis 56
804 PRT058 Pure Autonomic Failure 56
805 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
806 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 56
807 VGT001 Vogt-Koyanagi-Harada Disease 55
808 KBG001 Kbg Syndrome 55
809 P LTR009 Lateral Meningocele Syndrome 55
810 c GLC111 Galactosemia Ii 55
811 AMY084 Amyloidosis, Finnish Type 55
812 P SCK004 Seckel Syndrome 55
813 c ESS001 Essential Tremor 55
814 HLS003 Helsmoortel-Van Der Aa Syndrome 54
815 P SLV027 Silver-Russell Syndrome 1 54
816 SPN041 Spinal Cord Disease 54
817 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
818 MNN032 Meningococcal Meningitis 54
819 c HYD064 Hydrocephalus, Congenital, 1 54
820 P TRM003 Tremor 54
821 MLT135 Multiple Sulfatase Deficiency 53
822 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 53
823 P FNG006 Feingold Syndrome 1 53
824 FCL014 Focal Epilepsy 53
825 c GLC112 Galactosemia Iii 53
826 NRT004 Neuritis 53
827 CHP002 Chops Syndrome 53
828 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 53
829 DBT010 Diabetic Neuropathy 53
830 c CNG216 Congenital Hydrocephalus 53
831 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
832 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
833 HMP005 Hemiplegia 52
834 P FBR031 Febrile Seizures 52
835 YNS002 Yunis-Varon Syndrome 52
836 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 52
837 JHN001 Johanson-Blizzard Syndrome 52
838 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
839 P FRN012 Frontometaphyseal Dysplasia 52
840 P ANN002 Anencephaly 52
841 BRD054 Brody Disease 52
842 c PRG011 Progressive Myoclonus Epilepsy 52
843 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
844 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 52
845 NRL004 Neuroleptic Malignant Syndrome 51
846 KRT006 Keratoconjunctivitis 51
847 c TRC092 Trichorhinophalangeal Syndrome, Type I 51
848 c FRN059 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 51
849 P MGR003 Migraine with Aura 51
850 P CRN025 Corneal Dystrophy 51
851 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
852 c HRD173 Hereditary Late-Onset Parkinson Disease 51
853 c PRK085 Parkinson Disease 1, Autosomal Dominant 51
854 SPS007 Spastic Cerebral Palsy 51
855 c D2H002 D-2-Hydroxyglutaric Aciduria 1 51
856 P MNN007 Meningocele 50
857 OHD005 Ohdo Syndrome, Sbbys Variant 50
858 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 50
859 FCL012 Facial Paralysis 50
860 SND002 Sneddon Syndrome 50
861 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 50
862 INT075 Intracranial Hypertension 50
863 ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 50
864 TTH004 Tethered Spinal Cord Syndrome 50
865 P MCL001 Mucolipidosis 50
866 SCH074 Schuurs-Hoeijmakers Syndrome 50
867 SBP001 Subependymal Giant Cell Astrocytoma 50
868 c HNT004 Huntington Disease-Like 2 49
869 MCR088 Microscopic Polyangiitis 49
870 c MCL016 Mucolipidosis Iii Gamma 49
871 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
872 c EPS017 Episodic Ataxia, Type 6 49
873 c CHR095 Chronic Progressive External Ophthalmoplegia 49
874 P BHR002 Bohring-Opitz Syndrome 49
875 P MGR001 Migraine Without Aura 48
876 BLL004 Bullous Keratopathy 48
877 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 48
878 P SCL015 Scleritis 48
879 PLY024 Polymicrogyria 48
880 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 48
881 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
882 c JBR013 Joubert Syndrome 8 48
883 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 48
884 c PRM108 Primary Progressive Multiple Sclerosis 48
885 MNN009 Meningoencephalitis 48
886 SPN402 Spinal Muscular Atrophy, X-Linked 2 48
887 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 48
888 THR013 Thoracic Outlet Syndrome 48
889 PRL019 Prolidase Deficiency 47
890 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 47
891 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
892 SML028 Semilobar Holoprosencephaly 47
893 c SPN312 Spinocerebellar Ataxia 14 47
894 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
895 c EPS034 Episodic Ataxia, Type 5 47
896 EPT021 Epithelial Recurrent Erosion Dystrophy 47
897 CCN001 Cocaine Dependence 47
898 c HLP027 Holoprosencephaly 7 47
899 P MTC010 Mitochondrial Dna Depletion Syndrome 47
900 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
901 PTH003 Pathologic Nystagmus 47
902 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
903 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
904 P MSM014 Mismatch Repair Cancer Syndrome 47
905 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
906 c JBR024 Joubert Syndrome 14 47
907 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
908 WHT019 White-Sutton Syndrome 46
909 UNV001 Unverricht-Lundborg Syndrome 46
910 SYN036 Syncope 46
911 c DYS059 Dystonia 16 46
912 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 46
913 HSD004 Hsd10 Mitochondrial Disease 46
914 c GLL037 Guillain-Barre Syndrome, Familial 46
915 P PLY020 Polyradiculoneuropathy 46
916 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
917 MCL009 Mcleod Syndrome 46
918 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 46
919 c JBR043 Joubert Syndrome 32 46
920 c JBR031 Joubert Syndrome 21 46
921 QDR001 Quadriplegia 46
922 c HNT010 Huntington Disease-Like 1 46
923 HNN001 Hennekam Syndrome 46
924 c GLY016 Glycogen Storage Disease Ib 46
925 P DMY001 Demyelinating Polyneuropathy 46
926 P SPS008 Spastic Ataxia 45
927 c PRK065 Parkinson Disease 20, Early-Onset 45
928 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 45
929 c GM2006 Gm2 Gangliosidosis 45
930 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45
931 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
932 c FBR070 Febrile Seizures, Familial, 8 45
933 RNP003 Renpenning Syndrome 1 45
934 c ALZ062 Alzheimer Disease 19 45
935 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
936 P TRN034 Transverse Myelitis 45
937 GNG008 Ganglioneuroblastoma 45
938 c SCN036 Secondary Progressive Multiple Sclerosis 45
939 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
940 c SPN286 Spinocerebellar Ataxia 40 44
941 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
942 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 44
943 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
944 c SCK009 Seckel Syndrome 1 44
945 LNG015 Lingual-Facial-Buccal Dyskinesia 44
946 VTR003 Vitreous Detachment 44
947 MCR099 Microlissencephaly 44
948 P CRN026 Corneal Edema 44
949 BCK003 Background Diabetic Retinopathy 44
950 MYH012 Myhre Syndrome 44
951 CNJ012 Conjunctival Disease 44
952 c ATM099 Autoimmune Uveitis 44
953 KRT008 Keratopathy 44
954 HYP034 Hypertensive Encephalopathy 44
955 P CMM008 Communicating Hydrocephalus 43
956 c GLY044 Glycogen Storage Disease Ixc 43
957 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 43
958 WDM005 Wiedemann-Rautenstrauch Syndrome 43
959 c PRK052 Parkinson Disease 17 43
960 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 43
961 c CTR130 Cataract 9, Multiple Types 43
962 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 43
963 EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 43
964 CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 43
965 OBS004 Obstructive Hydrocephalus 43
966 INF159 Infantile Sialic Acid Storage Disease 43
967 ENC005 Encephalomalacia 43
968 c MYC083 Myoclonic Epilepsy, Familial Infantile 43
969 NTR007 Neutral Lipid Storage Disease with Myopathy 42
970 c AXN009 Axenfeld-Rieger Syndrome, Type 1 42
971 EXT022 Exotropia 42
972 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
973 c SPN265 Spinocerebellar Ataxia 36 42
974 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 42
975 RFL002 Reflex Epilepsy 42
976 SCH037 Schinzel-Giedion Midface Retraction Syndrome 42
977 CDK006 Cdkl5 Deficiency Disorder 41
978 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 41
979 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
980 P CRN024 Corneal Disease 41
981 c SCK010 Seckel Syndrome 4 41
982 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
983 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 41
984 c CHR086 Chronic Conjunctivitis 41
985 LWG006 Low Grade Glioma 41
986 c PRK091 Parkinson Disease 4, Autosomal Dominant 41
987 KPR003 Keipert Syndrome 41
988 CRB081 Cerebellar Ataxia, Cayman Type 41
989 IFP002 Ifap Syndrome 1, with or Without Bresheck Syndrome 41
990 c PRM032 Primary Congenital Glaucoma 41
991 c FRN049 Frontometaphyseal Dysplasia 1 41
992 HMF008 Hemifacial Atrophy, Progressive 41
993 ANG004 Angioid Streaks 41
994 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 41
995 c SCK015 Seckel Syndrome 2 40
996 PLY110 Polymicrogyria, Bilateral Temporooccipital 40
997 HYP084 Hypopyon 40
998 c ALP076 Alopecia-Mental Retardation Syndrome 1 40
999 LNS001 Lens Subluxation 40
1000 c RBN008 Rubinstein-Taybi Syndrome 2 40
1001 FRY002 Fryns Syndrome 40
1002 c JBR030 Joubert Syndrome 22 40
1003 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 40
1004 P CRB045 Cerebellar Hypoplasia 40
1005 c SPN103 Spinocerebellar Ataxia 31 40
1006 c SCH079 Schizophrenia 1 40
1007 INT409 Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type 40
1008 IDM001 Ideomotor Apraxia 40
1009 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 40
1010 P CNG024 Congenital Nystagmus 40
1011 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
1012 BDY001 Body Dysmorphic Disorder 40
1013 c HYP519 Hyperekplexia 3 39
1014 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 39
1015 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
1016 c PRM212 Primary Microcephaly 39
1017 P CNG629 Congenital Disorder of Deglycosylation 1 39
1018 TBL035 Tubulinopathy 39
1019 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
1020 c CTR115 Cataract 16, Multiple Types 39
1021 c JBR028 Joubert Syndrome 13 39
1022 48X003 48,xxyy Syndrome 39
1023 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 39
1024 CRT009 Critical Illness Polyneuropathy 39
1025 c HYP510 Hyperekplexia 2 39
1026 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
1027 c DVL103 Developmental and Epileptic Encephalopathy 80 39
1028 SCR011 Scrapie 38
1029 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 38
1030 SLT014 Salt and Pepper Developmental Regression Syndrome 38
1031 PRM056 Primrose Syndrome 38
1032 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 38
1033 c FBR072 Febrile Seizures, Familial, 11 38
1034 CRN022 Corneal Degeneration 38
1035 c MYS067 Myasthenic Syndrome, Congenital, 22 38
1036 GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 38
1037 MLN088 Malan Syndrome 38
1038 HYP026 Hypoglycemic Coma 38
1039 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 38
1040 P UVS001 Uv-Sensitive Syndrome 38
1041 c GLC083 Glaucoma 3, Primary Infantile, B 38
1042 DBT081 Diabetic Encephalopathy 38
1043 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 38
1044 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 38
1045 P SCH077 Schwannomatosis 1 38
1046 c SCH056 Schizophrenia 15 38
1047 EHR002 Ehrlichiosis 38
1048 c ERL056 Early-Onset Parkinson's Disease 38
1049 c FBR069 Febrile Seizures, Familial, 4 37
1050 ARC023 Arcus Corneae 37
1051 c EPL209 Epilepsy, Idiopathic Generalized 10 37
1052 CRN288 Corneal Dystrophy, Band-Shaped 37
1053 ANT019 Anterograde Amnesia 37
1054 c ACT067 Acute Conjunctivitis 37
1055 c SCK029 Seckel Syndrome 7 37
1056 P PRR032 Pura-Related Neurodevelopmental Disorders 37
1057 INT042 Internuclear Ophthalmoplegia 37
1058 DYS001 Dyskinetic Cerebral Palsy 37
1059 P THY054 Thyrotoxic Periodic Paralysis 37
1060 c JBR021 Joubert Syndrome 18 37
1061 P SCL013 Scleral Disease 37
1062 c GLY043 Glycogen Storage Disease Xii 37
1063 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 37
1064 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 37
1065 c EPS033 Episodic Ataxia, Type 8 37
1066 c SCK011 Seckel Syndrome 5 37
1067 SCR035 Sacral Agenesis with Vertebral Anomalies 37
1068 RCR001 Recurrent Corneal Erosion 37
1069 DGN002 Degenerative Myopia 36
1070 RHB002 Rhabdoid Meningioma 36
1071 P SCL047 Sclerocornea 36
1072 SCR001 Secretory Meningioma 36
1073 CMB015 Combined Oxidative Phosphorylation Deficiency 4 36
1074 INT003 Intracranial Hypotension 36
1075 c FRN048 Frontometaphyseal Dysplasia 2 36
1076 IDH005 Idh-Wildtype Glioblastoma 36
1077 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 36
1078 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 36
1079 MLN009 Melanotic Neurilemmoma 36
1080 CHR079 Choroid Disease 36
1081 c MCR109 Microphthalmia, Isolated 4 36
1082 c ERL020 Early-Onset Schizophrenia 36
1083 CLR011 Clear Cell Ependymoma 36
1084 P HYP700 Hypomyelinating Leukodystrophy 36
1085 c GLY006 Glycogen Storage Disease Viii 36
1086 c EPS037 Episodic Ataxia, Type 4 36
1087 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 36
1088 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 35
1089 ADM001 Adamantinous Craniopharyngioma 35
1090 CNJ007 Conjunctivochalasis 35
1091 c PRK070 Parkinson Disease 21 35
1092 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 35
1093 CMP006 Complex Partial Epilepsy 35
1094 c LFR009 Li-Fraumeni Syndrome 1 35
1095 RBS002 Rubeosis Iridis 35
1096 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 35
1097 KLV001 Kluver-Bucy Syndrome 35
1098 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 35
1099 c ANR050 Aneurysm, Intracranial Berry, 12 35
1100 c TRM024 Tremor, Hereditary Essential, 1 35
1101 CRT078 Corticobasal Syndrome 35
1102 c ATP003 Atp6v0a2-Related Cutis Laxa 35
1103 c LFR007 Li-Fraumeni Syndrome 2 35
1104 CRB009 Cerebritis 35
1105 PNC012 Punctate Epithelial Keratoconjunctivitis 35
1106 c HNT011 Huntington Disease-Like 3 35
1107 c EPL155 Epilepsy, Progressive Myoclonic, 8 35
1108 c CHR091 Chronic Meningitis 35
1109 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
1110 c EPL133 Epilepsy, Juvenile Absence 1 35
1111 c EPL207 Epilepsy, Progressive Myoclonic, 1b 34
1112 ALZ030 Alazami Syndrome 34
1113 WLL004 Wallerian Degeneration 34
1114 PRT006 Partial Motor Epilepsy 34
1115 LMB069 Lamb-Shaffer Syndrome 34
1116 c CTR122 Cataract 5, Multiple Types 34
1117 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
1118 c RTT008 Rett Syndrome, Congenital Variant 34
1119 MLT105 Multiple System Atrophy, Cerebellar Type 34
1120 c MYS064 Myasthenic Syndrome, Congenital, 16 34
1121 c ANT023 Anterior Scleritis 34
1122 c EPL134 Epilepsy, Progressive Myoclonic 7 34
1123 INT370 Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type 34
1124 PPL019 Papillary Conjunctivitis 34
1125 CHR028 Chronic Wasting Disease 34
1126 c RNG029 Ring Chromosome 14 Syndrome 34
1127 c ISL165 Isolated Microphthalmia 3 34
1128 P XLN255 X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders 34
1129 PST092 Posttransplant Acute Limbic Encephalitis 34
1130 RDG001 Red-Green Color Blindness 34
1131 P SYN165 Syndromic Microphthalmia 34
1132 c NGH007 Night Blindness, Congenital Stationary, Type 1b 34
1133 P SPS012 Spastic Paraplegia 3a 34
1134 c SCH045 Schizophrenia 12 34
1135 c PST008 Posterior Scleritis 34
1136 ANS004 Anisometropia 33
1137 c ACT159 Acute Transverse Myelitis 33
1138 PLX004 Plexopathy 33
1139 NWF001 Newfoundland Rod-Cone Dystrophy 33
1140 PPL013 Papillary Ependymoma 33
1141 c INF019 Infectious Anterior Uveitis 33
1142 CBB005 Cobblestone Lissencephaly 33
1143 MRT012 Martin-Probst Syndrome 33
1144 P OVR096 Overlap Myositis 33
1145 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1146 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 33
1147 c AMY022 Amyotrophic Lateral Sclerosis Type 5 33
1148 PRL013 Paralytic Poliomyelitis 33
1149 LRG003 Large Cell Medulloblastoma 33
1150 c RNG008 Ring Chromosome 13 33
1151 c THY084 Thyrotoxic Periodic Paralysis 1 33
1152 c EPS015 Episodic Ataxia, Type 7 33
1153 c THY083 Thyrotoxic Periodic Paralysis 2 33
1154 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 33
1155 c JVN009 Juvenile Pilocytic Astrocytoma 33
1156 c RNG023 Ring Chromosome 7 33
1157 CRN009 Corneal Ectasia 32
1158 c AMY081 Amyotrophic Lateral Sclerosis Type 12 32
1159 c CTR131 Cataract 17, Multiple Types 32
1160 P SPC019 Specific Language Impairment 32
1161 c FML350 Familial Febrile Seizures 32
1162 c SCH075 Schizophrenia 19 32
1163 HRP025 Herpes Simplex Virus Keratitis 32
1164 NWN001 New-Onset Refractory Status Epilepticus 32
1165 ALT003 Alternating Exotropia 32
1166 c RNG018 Ring Chromosome 22 32
1167 TYP026 Typical Congenital Nemaline Myopathy 32
1168 c EPL086 Epilepsy, Idiopathic Generalized 9 32
1169 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
1170 SDN002 Sudanophilic Cerebral Sclerosis 32
1171 c SCH051 Schizophrenia 4 32
1172 c EPS014 Episodic Ataxia, Type 3 32
1173 IRR001 Irregular Astigmatism 32
1174 NNS061 Non-Syndromic Pontocerebellar Hypoplasia 32
1175 c EPL009 Epilepsy Progressive Myoclonic Type 3 32
1176 CHL107 Childhood-Onset Nemaline Myopathy 32
1177 c GLY017 Glycogen Storage Disease Ic 32
1178 CRN273 Corneal Dystrophy, Subepithelial Mucinous 32
1179 c FBR073 Febrile Seizures, Familial, 1 32
1180 MNN006 Meninges Hemangiopericytoma 32
1181 c TRM017 Tremor, Hereditary Essential, 4 31
1182 c SPS212 Spastic Ataxia 5, Autosomal Recessive 31
1183 BRC002 Brachial Plexus Neuritis 31
1184 FCL049 Focal Hand Dystonia 31
1185 c SCK033 Seckel Syndrome 8 31
1186 MGL033 Megalocornea-Mental Retardation Syndrome 31
1187 P VTR008 Vitreoretinal Degeneration 31
1188 RCH002 Richards-Rundle Syndrome 31
1189 ANT007 Anterior Horn Cell Disease 31
1190 c EPL188 Epilepsy, Progressive Myoclonic, 10 31
1191 c RNG017 Ring Chromosome 21 31
1192 c SLV028 Silver-Russell Syndrome 3 31
1193 c DYS040 Dyskeratosis Congenita Autosomal Recessive 31
1194 c PRR021 Perrault Syndrome 4 31
1195 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
1196 c DRY002 Dry Beriberi 31
1197 MTC212 Mitchell Syndrome 31
1198 ANP032 Anaplastic Pleomorphic Xanthoastrocytoma 31
1199 c SPS062 Spastic Paraplegia 34, X-Linked 31
1200 FBR001 Fibrous Meningioma 31
1201 TRN002 Transitional Meningioma 31
1202 TTR027 Tetrasomy 15q26 31
1203 VTR002 Vitreous Syneresis 30
1204 FCL003 Facial Hemiatrophy 30
1205 SPR168 Supratentorial Ependymoma 30
1206 LGH012 Leigh Syndrome with Leukodystrophy 30
1207 c RTN057 Retinitis Pigmentosa 29 30
1208 c ANN020 Anencephaly 1 30
1209 c GLY023 Glycogen Storage Disease Type 0 30
1210 P CRN249 Cornea Plana 30
1211 VRN001 Vernal Conjunctivitis 30
1212 c RNG004 Ring Chromosome 1 30
1213 c CTR175 Cataract 24 30
1214 c EPL084 Epilepsy, Idiopathic Generalized 11 30
1215 EPL138 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 30
1216 c SPS072 Spastic Ataxia 1, Autosomal Dominant 30
1217 c EPL165 Epilepsy, Idiopathic Generalized 14 30
1218 MRR003 Murray Valley Encephalitis 30
1219 P TRC031 Trichorhinophalangeal Syndrome 30
1220 c HLP021 Holoprosencephaly 6 30
1221 SPS134 Spasmodic Dystonia 30
1222 c SPS142 Spastic Ataxia 2, Autosomal Recessive 30
1223 c MCR392 Microphthalmia, Syndromic 16 30
1224 MLT116 Multiple System Atrophy, Parkinsonian Type 30
1225 c SCK032 Seckel Syndrome 6 30
1226 LTN022 Late-Onset Distal Myopathy, Markesbery-Griggs Type 30
1227 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 30
1228 c CTR119 Cataract 32, Multiple Types 30
1229 c PRK081 Parkinson Disease 19a, Juvenile-Onset 30
1230 c FRD006 Friedreich Ataxia 2 30
1231 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 30
1232 c GLC115 Galactosemia Iv 30
1233 c SCH087 Schizophrenia 18 29
1234 c EPL091 Epilepsy, Idiopathic Generalized 3 29
1235 MNG007 Manganese Poisoning 29
1236 INT428 Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type 29
1237 c HRD186 Hereditary Spastic Paraplegia 51 29
1238 c FBR074 Febrile Seizures, Familial, 6 29
1239 c SPS170 Spastic Ataxia 2 29
1240 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 29
1241 c SCH083 Schizophrenia 7 29
1242 RHM015 Rhombencephalosynapsis 29
1243 c RNG022 Ring Chromosome 6 29
1244 c RNG007 Ring Chromosome 12 29
1245 c CTR141 Cataract 21, Multiple Types 29
1246 DSS005 Dissociated Nystagmus 29
1247 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
1248 c SCH080 Schizophrenia 3 29
1249 CTN019 Cutaneous Polyarteritis Nodosa 29
1250 CRB017 Cerebral Falx Meningioma 29
1251 PHT002 Photokeratitis 29
1252 PRM004 Primary Amebic Meningoencephalitis 29
1253 RST024 Rosette-Forming Glioneuronal Tumor 29
1254 IRS003 Iris Disease 29
1255 c RNG020 Ring Chromosome 4 28
1256 CRN128 Corneal Dystrophy, Endothelial, X-Linked 28
1257 c EPL154 Epilepsy, Progressive Myoclonic, 9 28
1258 c ALZ059 Alzheimer Disease 13 28
1259 ANS002 Aniseikonia 28
1260 OCL051 Ocular Tuberculosis 28
1261 DCR002 Dacryocystocele 28
1262 LCR001 Lacrimal Duct Obstruction 28
1263 c DYS175 Dystonia 26, Myoclonic 28
1264 c SCH064 Schizophrenia 10 28
1265 c PRX091 Peroxisome Biogenesis Disorder 8a 28
1266 c TRM022 Tremor, Hereditary Essential, 5 28
1267 c TRM020 Tremor, Hereditary Essential, 2 28
1268 c JVN015 Juvenile Huntington Disease 28
1269 c SPN421 Spinocerebellar Ataxia 47 28
1270 c ERL003 Early Onset Absence Epilepsy 28
1271 PNP001 Panophthalmitis 28
1272 c SCH052 Schizophrenia 14 28
1273 SLR002 Solar Retinopathy 28
1274 IDP062 Idiopathic Syringomyelia 28
1275 c SHW007 Shwachman-Diamond Syndrome 2 28
1276 c RNG024 Ring Chromosome 8 28
1277 HYP047 Hypertropia 28
1278 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 28
1279 c CHR026 Charcot-Marie-Tooth Disease Type X 28
1280 NSY001 N Syndrome 28
1281 c RNG005 Ring Chromosome 10 28
1282 LST003 Listeria Meningitis 28
1283 MCR326 Microcephaly-Micromelia Syndrome 28
1284 c MYC086 Myoclonic Epilepsy, Juvenile 4 28
1285 OPH015 Ophn1 Syndrome 28
1286 c GLY093 Glycogen Storage Disease Ixa 28
1287 c ANR047 Aniridia 2 28
1288 c LKD028 Leukodystrophy, Hypomyelinating, 15 28
1289 c SCH061 Schizophrenia 16 28
1290 STR086 Stromal Dystrophy 28
1291 TRG019 Trigonocephaly with Short Stature and Developmental Delay 28
1292 c BLT007 Bilateral Frontal Polymicrogyria 28
1293 P MCR327 Microcephaly, Short Stature, and Limb Abnormalities 28
1294 P NNT006 Neonatal Myasthenia Gravis 28
1295 OCC011 Occipital Encephalocele 27
1296 c UVS005 Uv-Sensitive Syndrome 1 27
1297 c SCH085 Schizophrenia 2 27
1298 INT053 Intracranial Vasospasm 27
1299 c MYC068 Myoclonic Epilepsy of Infancy 27
1300 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 27
1301 VST003 Vestibular Nystagmus 27
1302 RMN002 Ramon Syndrome 27
1303 c PRK083 Parkinson Disease 22, Autosomal Dominant 27
1304 c SPS208 Spastic Ataxia 4, Autosomal Recessive 27
1305 c MYS056 Myasthenic Syndrome, Congenital, 17 27
1306 c MYM004 Moyamoya Disease 2 27
1307 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
1308 FCL007 Facial Neuralgia 27
1309 c SPS136 Spastic Ataxia 3, Autosomal Recessive 27
1310 ART110 Arteritic Anterior Ischemic Optic Neuropathy 27
1311 c SCH053 Schizophrenia 13 27
1312 c SLV029 Silver-Russell Syndrome 2 27
1313 SBD001 Subdural Empyema 27
1314 c EPS048 Episodic Ataxia, Type 9 27
1315 c MSM025 Mismatch Repair Cancer Syndrome 4 27
1316 c JBR044 Joubert Syndrome 31 27
1317 HTR001 Heterophyiasis 27
1318 IGG013 Igg4-Related Pachymeningitis 27
1319 c FBR071 Febrile Seizures, Familial, 5 27
1320 P RNG032 Ring Chromosome 27
1321 c SPS171 Spastic Ataxia 5 27
1322 c PRK098 Parkinson Disease 5, Autosomal Dominant 27
1323 P ACT241 Acute Bilirubin Encephalopathy 27
1324 P AST059 Astrocytoma, Idh-Mutant, Grade 4 26
1325 P CNG539 Congenital Disorder of Glycosylation with Defective Fucosylation 1 26
1326 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
1327 PHC001 Phacolytic Glaucoma 26
1328 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 26
1329 c CTR116 Cataract 15, Multiple Types 26
1330 ANS018 Anismus 26
1331 c EPS013 Episodic Kinesigenic Dyskinesia 2 26
1332 c EPL089 Epilepsy, Idiopathic Generalized 4 26
1333 c RNG013 Ring Chromosome 18 26
1334 ACT065 Acute Hemorrhagic Encephalitis 26
1335 c DVL104 Developmental and Epileptic Encephalopathy 81 26
1336 c RST020 Restless Legs Syndrome 6 26
1337 c ANT087 Anterior Segment Dysgenesis 6 26
1338 CHR055 Chordoid Meningioma 26
1339 ALG001 Algoneurodystrophy 26
1340 c RTN068 Retinitis Pigmentosa 6 26
1341 TRN011 Transient Refractive Change 26
1342 NN2002 Non 24 Hour Sleep Wake Disorder 26
1343 c VNT024 Ventricular Septal Defect 3 26
1344 c EPL261 Epilepsy, X-Linked 1, with Variable Learning Disabilities and Behavior Disorders 26
1345 c FBR067 Febrile Seizures, Familial, 9 26
1346 GLY094 Glycine Encephalopathy with Normal Serum Glycine 26
1347 CVR001 Cavernous Sinus Meningioma 26
1348 PSD004 Pseudomembranous Conjunctivitis 26
1349 c ALZ014 Alzheimer Disease 16 26
1350 c CHD006 Chd2-Related Neurodevelopmental Disorders 26
1351 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
1352 c SCH084 Schizophrenia 8 26
1353 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 26
1354 c PRK099 Parkinson Disease 18, Autosomal Dominant 26
1355 c SCH081 Schizophrenia 6 26
1356 c EPL093 Epilepsy, Idiopathic Generalized 7 26
1357 c TRM029 Tremor, Hereditary Essential, 6 26
1358 EXP002 Exposure Keratitis 26
1359 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
1360 CHL162 Childhood Astrocytic Tumor 25
1361 MNT256 Mental Retardation, Buenos Aires Type 25
1362 HYP690 Hyper-Beta-Alaninemia 25
1363 FLM001 Filamentary Keratitis 25
1364 c RTS005 Ritscher-Schinzel Syndrome 4 25
1365 P FRM004 Foramen Magnum Meningioma 25
1366 c CRN280 Cornea Plana 2, Autosomal Recessive 25
1367 MCR001 Microcystic Meningioma 25
1368 P BLT016 Bilateral Polymicrogyria 25
1369 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 25
1370 CHL182 Childhood Supratentorial Ependymoma 25
1371 c DYS212 Dystonia 30 25
1372 HMD003 Hemidystonia 25
1373 c RTN053 Retinitis Pigmentosa 24 25
1374 OCC008 Occipital Neuralgia 25
1375 UNL005 Unilateral Polymicrogyria 25
1376 FRL002 Froelich Syndrome 25
1377 c CNG630 Congenital Disorder of Deglycosylation 2 25
1378 c RNG010 Ring Chromosome 15 25
1379 c ATS358 Autism X-Linked 6 25
1380 c RNG016 Ring Chromosome 20 25
1381 c CNG541 Congenital Disorder of Glycosylation with Defective Fucosylation 2 25
1382 ARG003 Argyll Robertson Pupil 25
1383 c SCH073 Schizophrenia 9 25
1384 CHL058 Childhood Electroclinical Syndrome 25
1385 PSM001 Psammomatous Meningioma 25
1386 PLC004 Pilocytic Astrocytoma of Cerebellum 25
1387 NDL011 Nodular Ganglioneuroblastoma 25
1388 P PPL023 Pupil Disease 24
1389 c MYM003 Moyamoya Disease 5 24
1390 c STR092 Striatal Degeneration, Autosomal Dominant 2 24
1391 c SCK037 Seckel Syndrome 9 24
1392 PRS053 Parsonage Turner Syndrome 24
1393 c PRK094 Parkinson Disease 11, Autosomal Dominant 24
1394 c PRK096 Parkinson Disease 13, Autosomal Dominant 24
1395 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 24
1396 c SCK038 Seckel Syndrome 10 24
1397 ADG002 Audiogenic Seizures 24
1398 c JBR047 Joubert Syndrome 35 24
1399 c GLC054 Glaucoma 3, Primary Congenital, D 24
1400 c HRD210 Hereditary Spastic Paraplegia 23 24
1401 c ADL068 Adult-Onset Nemaline Myopathy 24
1402 P MYM016 Moyamoya Angiopathy 24
1403 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
1404 c SLV031 Silver-Russell Syndrome 5 24
1405 LMB001 Lumbosacral Plexus Lesion 24
1406 c JBR038 Joubert Syndrome 27 24
1407 CHL168 Childhood Ependymoma 24
1408 c CRB221 Cerebellar Ataxia Type 48 24
1409 PRL014 Paralytic Squint 24
1410 c HRD212 Hereditary Episodic Ataxia 24
1411 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 24
1412 c TRS027 Torsion Dystonia 4 24
1413 c RNG006 Ring Chromosome 11 24
1414 DYS188 Dyskinesia, Limb and Orofacial, Infantile-Onset 24
1415 c JVN058 Juvenile-Onset Parkinson's Disease 24
1416 CG5002 Cog5-Congenital Disorder of Glycosylation 24
1417 STR002 Streptococcal Meningitis 24
1418 ACC003 Accommodative Esotropia 24
1419 c RTN051 Retinitis Pigmentosa 22 24
1420 c SCH082 Schizophrenia 5 24
1421 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 24
1422 GNT042 Genetic Recurrent Myoglobinuria 24
1423 c JBR050 Joubert Syndrome 38 24
1424 c SPS214 Spastic Ataxia 4 24
1425 c DNC008 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 24
1426 BRT061 Buratti-Harel Syndrome 24
1427 c AMY089 Amyotrophic Lateral Sclerosis 7 24
1428 CMB063 Combined Oxidative Phosphorylation Deficiency 25 24
1429 c ENC064 Encephalopathy, Acute, Infection-Induced 8 24
1430 c RNG015 Ring Chromosome 2 23
1431 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
1432 LWR016 Lowry-Maclean Syndrome 23
1433 ANG009 Angiomatous Meningioma 23
1434 SCH031 Scholte Syndrome 23
1435 PSY017 Psychogenic Movement Disorders 23
1436 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 23
1437 c MSM024 Mismatch Repair Cancer Syndrome 3 23
1438 SPS236 Spastic Tetraplegia and Axial Hypotonia, Progressive 23
1439 HMC036 Homocystinuria Without Methylmalonic Aciduria 23
1440 c MCR217 Microphthalmia, Syndromic 11 23
1441 c SCH088 Schwannomatosis 2 23
1442 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 23
1443 PNG001 Pinguecula 23
1444 c GLY001 Glycogen Storage Disease Ix 23
1445 c CTR158 Cataract 37 23
1446 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
1447 c CHR060 Chronic Dacryocystitis 23
1448 c CHR094 Chronic Polyneuropathy 23
1449 c CRB209 Cerebellar Malformation 23
1450 P ISL020 Isolated Microphthalmia 23
1451 c JBR048 Joubert Syndrome 36 23
1452 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 23
1453 c MLT094 Multiple Sclerosis 3 23
1454 c RNG019 Ring Chromosome 3 23
1455 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1456 NNT041 Neonatal Period Electroclinical Syndrome 23
1457 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 23
1458 ADL051 Adolescence-Adult Electroclinical Syndrome 23
1459 CRB018 Cerebral Lipidosis 23
1460 ATY034 Atypical Juvenile Parkinsonism 23
1461 DYT003 Dyt-Gnal 23
1462 SCL014 Scleral Staphyloma 23
1463 PRK107 Parkinsonism-Dystonia 3, Childhood-Onset 23
1464 c MYC085 Myoclonic Epilepsy, Juvenile 3 23
1465 PST056 Postural Tachycardia Syndrome 23
1466 SMP001 Simple Partial Epilepsy 22
1467 c RNG025 Ring Chromosome 9 22
1468 c FBR076 Febrile Seizures, Familial, 7 22
1469 c SPS163 Spastic Ataxia 3 22
1470 CRN156 Craniofacioskeletal Syndrome 22
1471 c ALZ060 Alzheimer Disease 14 22
1472 LFR008 L-Ferritin Deficiency 22
1473 c RNG021 Ring Chromosome 5 22
1474 c EPL092 Epilepsy, Idiopathic Generalized 2 22
1475 c CTR184 Cataract 39, Multiple Types 22
1476 c ALZ031 Alzheimer Disease 17 22
1477 c ATS438 Autosomal Recessive Spastic Ataxia 22
1478 c MSM023 Mismatch Repair Cancer Syndrome 2 22
1479 INT058 Intraorbital Meningioma 22
1480 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
1481 MYP154 Myopathy, Congenital, with Fast-Twitch Fiber Atrophy 22
1482 c UVS003 Uv-Sensitive Syndrome 3 22
1483 c CTR110 Cataract 26, Multiple Types 22
1484 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 22
1485 ABN003 Abnormal Threshold of Rods 22
1486 LTR007 Lateral Ventricle Meningioma 22
1487 c EPL210 Epilepsy, Progressive Myoclonic, 6 22
1488 c CRB217 Cerebellar Ataxia Type 42 22
1489 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 22
1490 PRF002 Perforated Corneal Ulcer 22
1491 c PRG143 Progressive Myoclonus Epilepsy 7 22
1492 c ENC070 Encephalopathy, Acute, Infection-Induced 9 22
1493 c ACT037 Acute Dacryocystitis 22
1494 LNG104 Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia 22
1495 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 22
1496 PHL001 Phlyctenulosis 22
1497 c RNG012 Ring Chromosome 17 22
1498 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1499 c SPS233 Spastic Ataxia 9, Autosomal Recessive 22
1500 CRN076 Crane-Heise Syndrome 22
1501 CRB032 Cerebral Convexity Meningioma 22
1502 c GLC089 Glaucoma 3, Primary Congenital, E 22
1503 CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 22
1504 NPH064 Nipah Virus Disease 21
1505 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
1506 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
1507 c EPL217 Epilepsy, Juvenile Myoclonic 10 21
1508 CHR051 Chorea Gravidarum 21
1509 c MGR036 Migraine with or Without Aura 2 21
1510 c HLP022 Holoprosencephaly 8 21
1511 9Q3002 9q33.3q34.11 Microdeletion Syndrome 21
1512 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 21
1513 P CRB095 Cerebral Palsy, Spastic Quadriplegic, 3 21
1514 c CTR160 Cataract 45 21
1515 c ERL063 Early-Onset Isolated Dystonia 21
1516 INF033 Infancy Electroclinical Syndrome 21
1517 PRT032 Partial Central Choroid Dystrophy 21
1518 SPN015 Spinal Polio 21
1519 PRN018 Paraneoplastic Polyneuropathy 21
1520 SPR019 Superficial Keratitis 21
1521 c CTR178 Cataract 27 21
1522 c SCH086 Schizophrenia 11 21
1523 CRN007 Corneal Staphyloma 21
1524 c PRK104 Parkinson Disease 24, Autosomal Dominant 21
1525 NCL001 Nuclear Senile Cataract 21
1526 NNP002 Nonparalytic Poliomyelitis 21
1527 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
1528 P CTS012 Cutis Verticis Gyrata 21
1529 c PRG146 Progressive Myoclonus Epilepsy 9 21
1530 c ZKV002 Zika Virus Congenital Syndrome 21
1531 c TRN062 Transient Neonatal Myasthenia Gravis 21
1532 P USM001 Usmani-Riazuddin Syndrome, Autosomal Dominant 21
1533 c ADL071 Adult Krabbe Disease 21
1534 c DYS223 Dystonia 28 21
1535 CLV003 Clivus Meningioma 20
1536 c CTR128 Cataract 33 20
1537 SPN092 Spinal Shock 20
1538 7P2001 7p22.1 Microduplication Syndrome 20
1539 c MLT093 Multiple Sclerosis 2 20
1540 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
1541 BNG077 Benign Idiopathic Neonatal Seizures 20
1542 GLF001 Gliofibroma 20
1543 BSL005 Basal Ganglia Cerebrovascular Disease 20
1544 DSS001 Disseminated Chorioretinitis 20
1545 c ANR046 Aniridia 3 20
1546 c SLV030 Silver-Russell Syndrome 4 20
1547 c ENC072 Encephalopathy, Acute, Infection-Induced 10 20
1548 c LKD037 Leukodystrophy, Hypomyelinating, 24 20
1549 PLY088 Polyvalvular Heart Disease Syndrome 20
1550 MLT132 Multifocal Dystonia 20
1551 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
1552 c TRM016 Tremor, Hereditary Essential, 3 20
1553 c ACQ027 Acquired Cutis Laxa 20
1554 KT6003 Kat6b-Related Multiple Congenital Anomalies Syndrome 20
1555 c HYD070 Hydrocephalus, Congenital Communicating, 1 20
1556 MXD001 Mixed Cerebral Palsy 20
1557 c PRK025 Parkinson Disease 10 20
1558 P ISL135 Isolated Dystonia 20
1559 c ANN021 Anencephaly 2 20
1560 MNN016 Mononeuritis of Upper Limb and Mononeuritis Multiplex 20
1561 c PRK058 Parkinson Disease 16 20
1562 IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 19
1563 c RNG011 Ring Chromosome 16 19
1564 c SPC027 Specific Language Impairment 1 19
1565 c CRN279 Cornea Plana 1, Autosomal Dominant 19
1566 PSD006 Pseudopterygium 19
1567 VTR001 Vitreoretinal Dystrophy 19
1568 c RTN063 Retinitis Pigmentosa 34 19
1569 c INF152 Infectious Posterior Uveitis 19
1570 c RNG014 Ring Chromosome 19 19
1571 CRN023 Corneal Deposit 19
1572 c EPL247 Epilepsy, Idiopathic Generalized 16 19
1573 RGL001 Regular Astigmatism 19
1574 c LTB003 Ltbp4-Related Cutis Laxa 19
1575 CRV063 Cervical Spina Bifida Aperta 19
1576 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 19
1577 c HNT013 Huntington Disease-Like Syndrome 19
1578 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 19
1579 c SPC023 Specific Language Impairment 5 19
1580 c UVS004 Uv-Sensitive Syndrome 2 19
1581 CRB015 Cerebellar Angioblastoma 19
1582 PST109 Postinfectious Encephalitis 19
1583 c GLC032 Glaucoma, Hereditary 19
1584 CHR706 Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 19
1585 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 19
1586 CHR043 Chronic Inflammatory Demyelinating Polyneuritis 19
1587 c MGR033 Migraine with or Without Aura 6 19
1588 FRY007 Fryns Macrocephaly 19
1589 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 19
1590 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 19
1591 FLN005 Folinic Acid-Responsive Seizures 19
1592 NRN022 Neurenteric Cyst 19
1593 c FBR068 Febrile Seizures, Familial, 10 19
1594 c MCR108 Microphthalmia, Isolated 7 19
1595 RSD002 Residual Stage of Open Angle Glaucoma 19
1596 SPN113 Spinocerebellar Ataxia with Dysmorphism 19
1597 c EPL260 Epilepsy, Idiopathic Generalized 18 19
1598 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 19
1599 CRN225 Cranio-Facial Dystonia 18
1600 FCL013 Focal Chorioretinitis 18
1601 HST005 Histoplasmosis Meningitis 18
1602 c CNT026 Central Corneal Ulcer 18
1603 c LSS044 Lissencephaly 6 18
1604 c ATS461 Autosomal Dominant Cerebellar Ataxia Type I 18
1605 P CNG515 Congenital Zika Syndrome 18
1606 OPH003 Ophthalmia Nodosa 18
1607 ISL155 Isolated Anencephaly 18
1608 JGL001 Jugular Foramen Meningioma 18
1609 DBL001 Double Pterygium 18
1610 LTH036 Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 18
1611 P BMN001 Biemond Syndrome 18
1612 CHR053 Chronic Follicular Conjunctivitis 18
1613 c FBL003 Fbln5-Related Cutis Laxa 18
1614 c MGR042 Migraine with or Without Aura 13 18
1615 DPK001 Deep Keratitis 18
1616 c MGR023 Migraine Without Aura 4 18
1617 PRM139 Primary Melanoma of the Central Nervous System 18
1618 c RNG031 Ring Chromosome Y Syndrome 18
1619 c CRB220 Cerebellar Ataxia Type 43 18
1620 c MGR022 Migraine with or Without Aura 3 18
1621 UPP007 Upper Thoracic Spina Bifida Cystica 18
1622 CRV061 Cervicothoracic Spina Bifida Cystica 18
1623 UPP008 Upper Thoracic Spina Bifida Aperta 18
1624 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 18
1625 c GLY116 Glycosylphosphatidylinositol Biosynthesis Defect 25 18
1626 c SPS229 Spastic Ataxia 8 18
1627 BNG078 Benign Paroxysmal Torticollis of Infancy 18
1628 3P2001 3p25.3 Microdeletion Syndrome 18
1629 c MLT095 Multiple Sclerosis 4 18
1630 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 17
1631 MCR042 Microbrachycephaly Ptosis Cleft Lip 17
1632 CMP066 Complement Component 8 Deficiency 17
1633 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1634 c SCN003 Secondary Corneal Edema 17
1635 c MCH013 Machado-Joseph Disease Type 3 17
1636 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 17
1637 c MGR024 Migraine with or Without Aura 5 17
1638 c MCH014 Machado-Joseph Disease Type 2 17
1639 ABN004 Abnormal Pupillary Function 17
1640 IDP006 Idiopathic Corneal Edema 17
1641 c CHR692 Chronic Encephalitis 17
1642 INT008 Intermittent Squint 17
1643 c CRB222 Cerebellar Ataxia Type 9 17
1644 CNJ011 Conjunctival Deposit 17
1645 RLN004 Rolandic Epilepsy-Speech Dyspraxia Syndrome 17
1646 c EPL074 Epilepsy, Hot Water, 1 17
1647 c ATS462 Autosomal Dominant Cerebellar Ataxia Type Iii 17
1648 CHL098 Childhood Myocerebrohepatopathy Spectrum 17
1649 HYD055 Hydroxylysinuria 17
1650 c SPS162 Spastic Ataxia 1 17
1651 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 17
1652 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 17
1653 PRX084 Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia 17
1654 P HTW002 Hot Water Epilepsy 17
1655 VNB001 Van Benthem-Driessen-Hanveld Syndrome 17
1656 P CNG348 Congenital Sialidosis Type 2 17
1657 EPT023 Epithelial and Subepithelial Dystrophy 17
1658 CNJ002 Conjunctival Folliculosis 17
1659 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 17
1660 CRM010 Cramp-Fasciculation Syndrome 16
1661 CTR171 Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome 16
1662 c PRG148 Progressive Myoclonus Epilepsy 1a 16
1663 c CNG433 Congenital Cornea Plana 16
1664 THY131 Thyrotoxic Myopathy 16
1665 c ACT030 Acute Dacryoadenitis 16
1666 FNG010 Fingerprint Body Myopathy 16
1667 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 16
1668 c GRN052 Grin2b-Related Neurodevelopmental Disorder 16
1669 MNN024 Meningitis and Encephalitis 16
1670 1P2001 1p21.3 Microdeletion Syndrome 16
1671 EPT024 Epithelial-Stromal Tgfbi Dystrophy 16
1672 c PRK022 Parkinson Disease 12 16
1673 MYC004 Mycotic Corneal Ulcer 16
1674 SPS006 Spastic Monoplegia 16
1675 CHR189 Chromosome 12p Deletion 16
1676 INF053 Infantile Spasms Broad Thumbs 16
1677 c MGR040 Migraine with or Without Aura 12 16
1678 PLY127 Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome 16
1679 c CHR035 Chronic Dacryoadenitis 16
1680 BNG011 Benign Shuddering Attacks 16
1681 c SPC028 Specific Language Impairment 2 16
1682 c EPL090 Epilepsy, Idiopathic Generalized 5 16
1683 c LTN017 Late-Infantile/juvenile Krabbe Disease 16
1684 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 16
1685 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1686 c SYN077 Syndromic X-Linked Intellectual Disability 12 16
1687 EXP003 Exophthalmic Ophthalmoplegia 16
1688 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 16
1689 HLL006 Halal Setton Wang Syndrome 16
1690 c LMN017 Lmnb1-Related Autosomal Dominant Leukodystrophy 16
1691 c ANR028 Aneurysm, Intracranial Berry, 3 16
1692 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 15
1693 16P011 16p12.1p12.3 Triplication Syndrome 15
1694 c MGR038 Migraine with or Without Aura 10 15
1695 c MTC014 Mitochondrial Dna Deletion Syndromes 15
1696 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 15
1697 c PST110 Posterior Corneal Dystrophy 15
1698 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 15
1699 INF139 Infantile Choroidocerebral Calcification Syndrome 15
1700 c CRB218 Cerebellar Ataxia Type 47 15
1701 c MGR037 Migraine with or Without Aura 8 15
1702 DST102 Distal Nebulin Myopathy 15
1703 APR008 Aprosencephaly and Cerebellar Dysgenesis 15
1704 c EPL186 Epilepsy, Juvenile Myoclonic 9 15
1705 PHR010 Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome 15
1706 KNJ001 Kunjin Encephalitis 15
1707 TRG013 Trigeminal Autonomic Cephalalgia 15
1708 c TBB006 Tubb4a-Related Leukodystrophy 15
1709 ANT040 Anton's Syndrome 15
1710 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
1711 c ANG058 Angelman Syndrome Due to a Point Mutation 15
1712 c SPR166 Sporadic Fatal Insomnia 15
1713 HMD002 Hemidystonia-Hemiatrophy Syndrome 15
1714 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 15
1715 c MGR039 Migraine with or Without Aura 11 15
1716 c SCN087 Scn3a-Related Neurodevelopmental Disorder 15
1717 XQ1001 Xq12-Q13.3 Duplication Syndrome 15
1718 CLF019 Cleft Palate Short Stature Vertebral Anomalies 15
1719 ACQ003 Acquired Tear Duct Stenosis 14
1720 TRC112 Trochlea of the Humerus, Aplasia of 14
1721 20Q002 20q11.2 Microduplication Syndrome 14
1722 EPL095 Epilepsy with Myoclonic Absences 14
1723 CNG472 Congenital Insensitivity to Pain with Severe Intellectual Disability 14
1724 MDL031 Medulloblastoma Shh Activated 14
1725 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1726 c CRB219 Cerebellar Ataxia Type 41 14
1727 CHR152 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 14
1728 CMB094 Combined Dystonia 14
1729 c PX6002 Pax6-Related Aniridia 14
1730 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1731 MDL032 Medulloblastoma Shh Activated and Tp53 Mutant 14
1732 c RST016 Restless Legs Syndrome 7 14
1733 VTR004 Vitreous Abscess 14
1734 P RTN200 Retinopathy, Pericentral Pigmentary, Dominant 14
1735 MNN015 Mononeuritis of Lower Limb 14
1736 ALT004 Alternating Esotropia 14
1737 c ANR011 Aneurysm, Intracranial Berry, 2 14
1738 STR070 Startle Epilepsy 14
1739 c GLC052 Glaucoma 3, Primary Congenital, C 14
1740 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1741 9Q3001 9q31.1q31.3 Microdeletion Syndrome 14
1742 c ATS470 Autosomal Dominant Pure Spastic Paraplegia 14
1743 PNF002 Painful Legs and Moving Toes Syndrome 14
1744 CNJ010 Conjunctival Degeneration 14
1745 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1746 c SCN066 Secondary Erythromelalgia 14
1747 SPS045 Spastic Paraplegia Facial Cutaneous Lesions 14
1748 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 14
1749 c PRG147 Progressive Myoclonus Epilepsy 8 14
1750 c ART171 Arthrogryposis Multiplex Congenita-3 14
1751 c ELN002 Eln-Related Cutis Laxa 14
1752 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 14
1753 c PRG144 Progressive Myoclonus Epilepsy 1b 14
1754 SPP006 Suppurative Uveitis 13
1755 BLL005 Bullous Retinoschisis 13
1756 MCR299 Microlissencephaly-Micromelia Syndrome 13
1757 BNG075 Benign Samaritan Congenital Myopathy 13
1758 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 13
1759 c EFM001 Efemp2-Related Cutis Laxa 13
1760 TPT004 Tapetoretinal Degeneration with Ataxia 13
1761 P ALP110 Alopecia-Mental Retardation Syndrome 13
1762 c ANR022 Aneurysm, Intracranial Berry, 4 13
1763 ACQ033 Acquired Aneurysmal Subarachnoid Hemorrhage 13
1764 CHL009 Childhood Cerebral Astrocytoma 13
1765 c ART170 Arthrogryposis Multiplex Congenita-1 13
1766 c HYD042 Hydrocephalus, Autosomal Dominant 13
1767 RTN102 Retinitis Pigmentosa, Y-Linked 13
1768 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 13
1769 SVR093 Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome 13
1770 MRG002 Marginal Corneal Ulcer 13
1771 XLN145 X-Linked Intellectual Disability, Pai Type 13
1772 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1773 CTH001 Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy 13
1774 P ANT012 Anterior Dislocation of Lens 13
1775 c NTC002 Notch3-Related Lateral Meningocele Syndrome 13
1776 c ANR024 Aneurysm, Intracranial Berry, 9 13
1777 CRT077 Cortical Blindness-Intellectual Disability-Polydactyly Syndrome 13
1778 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
1779 ATY052 Atypical Timothy Syndrome 13
1780 P VTM031 Vitamin B12 Plasma Level Quantitative Trait Locus 1 13
1781 GNT189 Genetic Prion Disease 13
1782 c VPS003 Vps35-Related Parkinson Disease 12
1783 c CNG253 Congenital Communicating Hydrocephalus 12
1784 c ANR030 Aneurysm, Intracranial Berry, 8 12
1785 c ANR023 Aneurysm, Intracranial Berry, 7 12
1786 DYS158 Dystonia-Aphonia Syndrome 12
1787 EVR001 Eversion of Lacrimal Punctum 12
1788 RBL002 Rubella Panencephalitis 12
1789 MLL015 Mills Syndrome 12
1790 DLY009 Delayed Encephalopathy Due to Carbon Monoxide Poisoning 12
1791 c THY119 Thyrotoxic Periodic Paralysis 3 12
1792 CYN006 Cyanide-Induced Parkinsonism-Dystonia 12
1793 INT228 Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome 12
1794 c MYM005 Moyamoya Disease 3 12
1795 STN003 Stenosis of Lacrimal Passage 12
1796 c ANR026 Aneurysm, Intracranial Berry, 5 12
1797 SPS184 Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome 12
1798 LRY045 Laryngeal Abductor Paralysis-Intellectual Disability Syndrome 12
1799 c PRM188 Primary Cutis Verticis Gyrata 12
1800 c ATS460 Autosomal Recessive Congenital Cerebellar Ataxia 12
1801 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 12
1802 CNG459 Congenital Myopathy with Myasthenic-Like Onset 12
1803 IDP079 Idiopathic Dropped Head Syndrome 12
1804 ATS074 Autosomal Recessive Ataxia Due to Pex10 Deficiency 12
1805 c ART172 Arthrogryposis Multiplex Congenita-4 12
1806 CRB013 Cerebellar Vermis Medulloblastoma 12
1807 SCL041 Sclerosing Perineurioma 12
1808 XLN142 X-Linked Intellectual Disability, Stevenson Type 12
1809 CNG516 Congenital Cervical Spinal Stenosis 12
1810 c MGR025 Migraine with Aura 7 12
1811 c SPC015 Specific Language Impairment 4 12
1812 SYP002 Syphilitic Encephalitis 12
1813 HYP062 Hypopyon Ulcer 11
1814 c ANR039 Aneurysm, Intracranial Berry, 11 11
1815 PRP108 Paraparetic Variant of Guillain-Barre Syndrome 11
1816 XLN101 X-Linked Complex Spastic Paraplegia 11
1817 c MGR027 Migraine with Aura 9 11
1818 CRN002 Corneal Argyrosis 11
1819 c SPC029 Specific Language Impairment 3 11
1820 c GNB002 Gnb5-Related Neurodevelopmental Disorder 11
1821 c DYS225 Dyskeratosis Congenita, Autosomal Recessive 8 11
1822 FNG013 Fungal Myositis 11
1823 CHL160 Childhood-Onset Steinert Myotonic Dystrophy 11
1824 HTR024 Htra1-Related Cerebral Small Vessel Disease 11
1825 c EPL075 Epilepsy, Hot Water, 2 11
1826 SBC038 Sub-Cortical Nodular Heterotopia 11
1827 c ATS431 Autosomal Recessive Distal Myopathy 11
1828 c HNR003 Hnrnpu-Related Neurodevelopmental Disorder 11
1829 MDL033 Medulloblastoma Shh Activated and Tp53 Wild-Type 11
1830 PRG076 Progressive Cavitating Leukoencephalopathy 11
1831 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 10
1832 c PRM185 Primary Essential Cutis Verticis Gyrata 10
1833 SPL071 Split Cord Malformation Type Ii 10
1834 GLB013 Glioblastoma Mesenchymal Subtype 10
1835 c GRN056 Grin1-Related Neurodevelopmental Disorder 10
1836 CRY020 Cryptogenic Late-Onset Epileptic Spasms 10
1837 c CHR061 Chronic Canaliculitis 10
1838 c HNR004 Hnrnph2-Related Neurodevelopmental Disorder 10
1839 c CHR689 Chronic Polyradiculoneuropathy 10
1840 HST002 Histoplasmosis Retinitis 10
1841 PRM376 Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome 10
1842 c ACQ069 Acquired Human Prion Disease 10
1843 c ATN031 Atn1-Related Neurodevelopmental Disorder 10
1844 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 10
1845 MYC062 Mycoplasma Encephalitis 10
1846 c RRC027 Rare Corneal Disorder 10
1847 PRS140 Parasitic Myositis 10
1848 c SPR154 Sporadic Human Prion Disease 10
1849 BLK004 Blake Pouch Cyst 10
1850 ANT052 Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita 10
1851 FCL062 Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation 10
1852 AXN006 Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy 10
1853 KLH007 Klhl7-Related Bohring-Opitz-Like/cold-Induced Sweating-Like Overlap Syndrome 10
1854 P ACT026 Acute Canaliculitis 10
1855 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 9
1856 c PRR042 Pure or Complex Autosomal Recessive Spastic Paraplegia 9
1857 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 9
1858 c STD003 Setd1b-Related Neurodevelopmental Disorder 9
1859 BNG092 Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep 9
1860 MLT076 Multiple System Atrophy with Orthostatic Hypotension 9
1861 EQT001 Equatorial Staphyloma 9
1862 RTC007 Reticular Perineurioma 9
1863 TRF003 Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome 9
1864 ISL058 Isolated Anencephaly/exencephaly 9
1865 c PST025 Posterior Dislocation of Lens 9
1866 P PST115 Posterior Fossa Group a Ependymoma 9
1867 MRB005 Marburg Acute Multiple Sclerosis 9
1868 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 9
1869 c ATS437 Autosomal Dominant Spastic Ataxia 9
1870 NDL004 Nodular Degeneration of Cornea 9
1871 STP001 Staphyloma Posticum 9
1872 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9
1873 TRN052 Transient Hyperammonemia of the Newborn 9
1874 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1875 ISL028 Isolated Cerebellar Vermis Hypoplasia 9
1876 ADL033 Adult Papillary Meningioma 9
1877 c PPP002 Ppp2r5d-Related Neurodevelopmental Disorder 9
1878 c PLY008 Polyneuropathy Due to Drug 9
1879 IDP042 Idiopathic Recurrent Stupor 8
1880 ANP028 Anaplastic/large Cell Medulloblastoma 8
1881 c ISL038 Isolated Focal Cortical Dysplasia Type Ib 8
1882 c SCL053 Sclerocornea, Autosomal Dominant 8
1883 c CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 8
1884 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
1885 P TTL001 Total Internal Ophthalmoplegia 8
1886 1P3003 1p35.2 Microdeletion Syndrome 8
1887 GNC007 Gonococcal Keratitis 8
1888 MNC005 Monocular Exotropia 8
1889 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 8
1890 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
1891 INT048 Intracerebral Cystic Meningioma 7
1892 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 7
1893 2P1003 2p13.2 Microdeletion Syndrome 7
1894 c ATS179 Autosomal Recessive Cerebral Atrophy 7
1895 ACT192 Acute Encephalopathy with Inflammation-Mediated Status Epilepticus 7
1896 PHL004 Phlegmonous Dacryocystitis 7
1897 XLN237 X-Linked Pure Spastic Paraplegia 7
1898 GNT165 Genetic Cerebral Small Vessel Disease 7
1899 P EPP001 Epiphora Due to Insufficient Drainage 7
1900 c PST023 Posterior Foramen Magnum Meningioma 7
1901 CPN001 C-P Angle Neurinoma 7
1902 ISL034 Isolated Megalencephaly 7
1903 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 7
1904 EXT049 Extramedullary Soft Tissue Plasmacytoma 7
1905 CNJ008 Conjunctival Concretion 7
1906 ACT005 Acute Hydrops Keratoconus 7
1907 CNG634 Congenital Insensitivity to Pain-Hyperhidrosis-Absence of Cutaneous Sensory Innervation 7
1908 ERL058 Early-Onset Progressive Encephalopathy with Migrant Continuous Myoclonus 7
1909 RNG002 Ring Corneal Ulcer 7
1910 CVT002 Cavitary Myiasis 7
1911 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 7
1912 ISL079 Isolated Encephalocele 7
1913 c VTM032 Vitamin B6 Plasma Level Quantitative Trait Locus 1 7
1914 SPS235 Spastic Ataxia-Dysarthria Due to Glutaminase Deficiency 7
1915 EML001 Emilin-1-Related Connective Tissue Disease 7
1916 c PST116 Posterior Fossa Group B Ependymoma 7
1917 ORG008 Orgasm-Induced Seizures 7
1918 DPL002 Diplegia of Upper Limb 7
1919 STR016 Steroid-Induced Glaucoma - Borderline 6
1920 PHL002 Philophthalmiasis 6
1921 MYC061 Myoclonic Epilepsy in Non-Progressive Encephalopathies 6
1922 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 6
1923 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 6
1924 ATS449 Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome 6
1925 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6
1926 c PST012 Posterior Corneal Pigmentation 6
1927 THN007 Thinking Seizures 6
1928 MNN003 Mononeuritis of Upper Limb 6
1929 LCL001 Localized Anterior Staphyloma 6
1930 c AST061 Astrocytoma, Idh-Mutant, Grade 3 6
1931 c BNG038 Benign Autosomal Dominant Myopathy 6
1932 c AST060 Astrocytoma, Idh-Mutant, Grade 2 6
1933 GNC004 Gonococcal Iridocyclitis 6
1934 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 5
1935 SYM001 Sympathetic Neurilemmoma 5
1936 c SPS172 Spastic Ataxia 7 5
1937 CNG234 Congenital Myopathy, Paradas Type 5
1938 c SCN083 Secondary Early-Onset Glaucoma 5
1939 FLT003 Flat Retinoschisis 5
1940 ANT015 Anatomical Narrow Angle Borderline Glaucoma 5
1941 P NNT056 Neonatal Epilepsy Syndrome 5
1942 RSD001 Residual Stage Angle-Closure Glaucoma 5
1943 c RRC026 Rare Conjunctivitis 5
1944 c PRM303 Primary Early-Onset Glaucoma 5
1945 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 5
1946 c KLH006 Klhl7-Related Bohring-Opitz-Like Syndrome 5
1947 c TRS028 Torsion Dystonia 17 5
1948 EXT011 Extrapyramidal and Movement Disease 5
1949 c ARX003 Arx-Related Epileptic Encephalopathy 5
1950 c ATS459 Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect 5
1951 NSL019 Nasal Ganglioglioma 5
1952 IDP007 Idiopathic Progressive Polyneuropathy 5
1953 P ANT008 Anterior Corneal Pigmentation 5
1954 MCL004 Macular Keratitis 5
1955 ISL159 Isolated Melanotic Schwannoma 5
1956 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
1957 c SYS074 Systemic Diseases with Anterior Uveitis 5
1958 SCH006 Schwannoma of Jugular Foramen 5
1959 EPD007 Epidural Spinal Canal Angiolipoma 5
1960 P ISL048 Isolated Cerebellar Vermis Agenesis 5
1961 SCH013 Schwannoma of Ureter 5
1962 BNG027 Benign Mediastinal Psammomatous Neurilemmoma 5
1963 c GLC033 Glaucoma, Hereditary Adult Type 1a 5
1964 c GLC029 Glaucoma Type 1c 5
1965 PPL011 Papillary Meningioma of the Cerebellum 5
1966 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 5
1967 c GLC035 Glaucoma, Primary Infantile Type 3a 5
1968 APR011 Aprosencephaly/atelencephaly Spectrum 5
1969 c FRG005 Fragile X Syndrome Type 2 4
1970 c FRG006 Fragile X Syndrome Type 3 4
1971 c FRG004 Fragile X Syndrome Type 1 4
1972 c DDX001 Ddx3x-Related Intellectual Disability 4
1973 SYN168 Syndrome with a Cerebellar Malformation As a Major Feature 4
1974 LCR003 Lacrimal Passage Granuloma 4
1975 FNC064 Functional Variant of Guillain-Barre Syndrome 4
1976 CRP024 Corpus Callosum Oligodendroglioma 4
1977 PRT004 Partial Sensory Epilepsy 4
1978 STB001 Stable Condition Keratoconus 4
1979 CNT008 Contact Lens Corneal Edema 4
1980 PRS141 Persistent Combined Dystonia 4
1981 PRT099 Parietal Lobe Ependymoma 4
1982 P PRM007 Primary Lacrimal Atrophy 4
1983 PRS026 Parasitic Conjunctivitis 4
1984 ATS457 Autosomal Recessive Syndromic Cerebellar Ataxia 4
1985 c SCN004 Secondary Vitreoretinal Degeneration 4
1986 c RRT014 Rare Tremor Disorder 4
1987 c SYS076 Systemic Diseases with Posterior Uveitis 4
1988 EPD008 Epidural Spinal Canal Meningioma 4
1989 CDQ002 Cauda Equina Intradural Extramedullary Astrocytoma 4
1990 c PRR041 Pure or Complex Autosomal Dominant Spastic Paraplegia 4
1991 PRC007 Periocular Meningioma 4
1992 CRB206 Cerebral Malformation with Epilepsy 4
1993 c ACT242 Acute and Subacute Inflammatory Demyelinating Polyneuropathy 4
1994 MLF008 Malformation of the Cerebellar Hemispheres 4
1995 c ATP023 Atp13a2-Related Parkinsonism 4
1996 BLP052 Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome 4
1997 c RRN016 Rare Inflammatory/autoimmune Corneal Disorder 4
1998 TCT001 Tactile Epilepsy 4
1999 RSC002 Rosacea Conjunctivitis 4
2000 TTL003 Total Circumpapillary Dystrophy of Choroid 4
2001 BWM001 Bowman's Membrane Folds or Rupture 4
2002 SMP002 Simple Chronic Conjunctivitis 4
2003 PRP014 Peripheral Degeneration of Cornea 4
2004 PHT005 Phthisical Cornea 4
2005 PRT016 Partial Circumpapillary Choroid Dystrophy 4
2006 BNG064 Benign Partial Epilepsy of Infancy with Complex Partial Seizures 4
2007 INT028 Intermixed Schwannian Stroma-Rich Ganglioneuroblastoma 4
2008 c RRS012 Rare Scleral Disorder 4
2009 RNG001 Ring Staphyloma 4
2010 PRP012 Peripheral Focal Chorioretinitis 4
2011 GNC008 Gonococcal Endophthalmia 4
2012 c RRD050 Rare Disorder of the Pupil 4
2013 CNT022 Central Gyrate Choroidal Dystrophy 4
2014 CLD015 Cold-Induced Sweating Syndrome-Hyperthermia Spectrum 4
2015 STR013 Stroma-Dominant and Stroma-Poor Composite Ganglioneuroblastoma 3
2016 SYN102 Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature 3
2017 CHR044 Chronic Toxic Polyneuropathy 3
2018 c FXG003 Foxg1 Syndrome Due to Intragenic Alteration 3
2019 c HYD017 Hydrocephalus Autosomal Recessive 3
2020 CL4011 Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Hemorrhagic Tendancy 3
2021 DFF008 Diffuse Secondary Choroid Atrophy 3
2022 PLM197 Pleomorphic Xanthoastrocytoma Braf Mutant 3
2023 CL4012 Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Ischemic Tendancy 3
2024 c SCN002 Secondary Lacrimal Atrophy 3
2025 STN001 Stenosis of Lacrimal Sac 3
2026 STN002 Stenosis of Lacrimal Punctum 3
2027 ANG008 Angioid Streaks of Choroid 3
2028 c EPP002 Epiphora Due to Excess Lacrimation 3
2029 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 3
2030 XLN236 X-Linked Intellectual Disability-Epilepsy Syndrome 3
2031 ATS456 Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia 3
2032 SNL006 Senile Atrophy of Choroid 3
2033 CHR685 Chromosomal Anomaly with Epilepsy As a Major Feature 2
2034 BNG065 Benign Partial Infantile Seizures 2
2035 LYS027 Lysosomal Disease with Epilepsy 2
2036 SPR171 Sporatic Amyotrophic Lateral Sclerosis 2
2037 PST108 Postinfectious Autoimmune Disease with Chorea 2
2038 SPH020 Sphingolipidosis with Epilepsy 2
2039 ERB001 Erb-Duchenne and Dejerine-Klumpke Palsies 1
2040 P FVL008 Foveal Hypoplasia 2 30
2041 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 49
2042 c ADT011 Auditory Neuropathy, Autosomal Dominant 1 37
2043 c DFN133 Deafness, Autosomal Recessive 9 48
2044 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 43
2045 c INT414 Intellectual Developmental Disorder, X-Linked 29 35
2046 c INT430 Intellectual Developmental Disorder, X-Linked 98 32
2047 c INT425 Intellectual Developmental Disorder, X-Linked 19 30
2048 c INT427 Intellectual Developmental Disorder, X-Linked 90 24
2049 c INT411 Intellectual Developmental Disorder, X-Linked 72 24
2050 c INT492 Intellectual Developmental Disorder, X-Linked 2 20
2051 c INT494 Intellectual Developmental Disorder, X-Linked 46 18
2052 c INT487 Intellectual Developmental Disorder, X-Linked 14 15
2053 c INT486 Intellectual Developmental Disorder, X-Linked 20 14
2054 NRG002 Neurogenic Bladder 55
2055 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 25
2056 c DFN352 Deafness, Autosomal Recessive 8 39
2057 P GST047 Gastrointestinal Neuroendocrine Tumor 36
2058 P INT404 Intellectual Developmental Disorder, X-Linked, Syndromic 13 35
2059 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 67
2060 P HRD207 Hereditary Transthyretin Amyloidosis 32
2061 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 32
2062 SML004 Small Intestine Neuroendocrine Neoplasm 24
2063 c INT533 Intellectual Developmental Disorder, Autosomal Dominant 13 39
2064 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 12
2065 NRN001 Neuroendocrine Carcinoma 46
2066 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 34
2067 c DFN250 Deafness, Autosomal Recessive 2 48
2068 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 32
2069 GST004 Gastric Neuroendocrine Neoplasm 44
2070 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30
2071 ADR003 Adrenal Neuroblastoma 27
2072 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 20
2073 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 18
2074 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 17
2075 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
2076 BSL048 Basilicata-Akhtar Syndrome 41
2077 LBR031 Leber Optic Atrophy and Dystonia 40
2078 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 34
2079 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 33
2080 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 32
2081 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 32
2082 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 29
2083 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
2084 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
2085 RTN232 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 28
2086 c INT475 Intellectual Developmental Disorder, Autosomal Dominant 39 27
2087 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 27
2088 c INT558 Intellectual Developmental Disorder, Autosomal Recessive 61 26
2089 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
2090 c INT424 Intellectual Developmental Disorder, X-Linked 97 24
2091 FNC065 Functioning Neuroendocrine Tumor of Pancreas 18
2092 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 13
2093 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
2094 INT252 Intestinal Neuroendocrine Benign Tumor 6
2095 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 53
2096 c DFN127 Deafness, Autosomal Recessive 7 38
2097 c DFN124 Deafness, Autosomal Recessive 6 38
2098 c DFN201 Deafness, Autosomal Recessive 3 38
2099 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 30
2100 c INT436 Intellectual Developmental Disorder, X-Linked, Syndromic 34 29
2101 c ADT012 Auditory Neuropathy, Autosomal Dominant 3 16
2102 P URF003 Urofacial Syndrome 1 55
2103 INT417 Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type 41
2104 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 31
2105 HNM002 Hinman Syndrome 31
2106 c VSC067 Visceral Neuropathy, Familial, 1, Autosomal Recessive 29
2107 P ADT009 Auditory Neuropathy Spectrum Disorder 28
2108 DFN356 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 24
2109 c URF002 Urofacial Syndrome 2 22
2110 c VSC068 Visceral Neuropathy, Familial, 3, Autosomal Dominant 20
2111 P MJR001 Major Depressive Disorder 75
2112 P GRS003 Griscelli Syndrome 56
2113 P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 53
2114 c GRS014 Griscelli Syndrome, Type 2 53
2115 c GRS013 Griscelli Syndrome, Type 1 48
2116 c INT520 Intellectual Developmental Disorder, Autosomal Dominant 7 46
2117 c XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 42
2118 c GRS012 Griscelli Syndrome, Type 3 40
2119 ADP007 Adie Pupil 40
2120 VLT001 Vulto-Van Silfhout-De Vries Syndrome 40
2121 P INT454 Intellectual Developmental Disorder, Autosomal Dominant 55, with Seizures 38
2122 c INT542 Intellectual Developmental Disorder, Autosomal Dominant 29 37
2123 GND017 Gand Syndrome 35
2124 INT578 Intellectual Developmental Disorder, Autosomal Dominant 30, with Speech Delay and Behavioral Abnormalities 34
2125 c INT550 Intellectual Developmental Disorder, Autosomal Dominant 41 34
2126 INT408 Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type 33
2127 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
2128 c INT507 Intellectual Developmental Disorder, Autosomal Recessive 5 31
2129 P ATS522 Autosomal Dominant Intellectual Developmental Disorder 31
2130 c INT555 Intellectual Developmental Disorder, Autosomal Dominant 46 30
2131 c INT549 Intellectual Developmental Disorder, Autosomal Dominant 38 30
2132 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 30
2133 c INT546 Intellectual Developmental Disorder, Autosomal Dominant 33 29
2134 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 29
2135 c INT505 Intellectual Developmental Disorder, Autosomal Recessive 2 29
2136 CHR712 Chromosome 20q11-Q12 Deletion Syndrome 28
2137 c INT560 Intellectual Developmental Disorder, Autosomal Dominant 52 28
2138 c INT554 Intellectual Developmental Disorder, Autosomal Dominant 45 28
2139 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 27
2140 c ATS523 Autosomal Recessive Intellectual Developmental Disorder 26
2141 c INT561 Intellectual Developmental Disorder, Autosomal Dominant 53 26
2142 c INT523 Intellectual Developmental Disorder, Autosomal Dominant 10 24
2143 c ATS524 Autosomal Dominant Intellectual Developmental Disorder 6 24
2144 c INT559 Intellectual Developmental Disorder, Autosomal Dominant 51 24
2145 c INT397 Intellectual Developmental Disorder, X-Linked 50 24
2146 MNT196 Mental Retardation, X-Linked 92 24
2147 URN001 Urinary Bladder Small Cell Neuroendocrine Carcinoma 24
2148 c INT462 Intellectual Developmental Disorder, Autosomal Dominant 34 23
2149 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 22
2150 SYN062 Syncope, Familial Vasovagal 19
2151 c MJR013 Major Depressive Disorder 1 16
2152 c MJR014 Major Depressive Disorder 2 16
2153 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
2154 PSY004 Psychotic Disorder 69
2155 c DFN097 Deafness, Autosomal Recessive 1a 51
2156 c DFN141 Deafness, Autosomal Recessive 12 47
2157 c DFN136 Deafness, Autosomal Dominant 9 46
2158 c DFN200 Deafness, Autosomal Dominant 17 44
2159 c DFN197 Deafness, Autosomal Recessive 37 43
2160 c DFN103 Deafness, Autosomal Recessive 1b 41
2161 c DFN203 Deafness, Autosomal Recessive 30 41
2162 OKR001 Okur-Chung Neurodevelopmental Syndrome 41
2163 c DFN111 Deafness, Autosomal Recessive 35 38
2164 c DFN117 Deafness, Autosomal Dominant 15 37
2165 c ATS006 Autosomal Recessive Nonsyndromic Deafness 37
2166 c DFN259 Deafness, Autosomal Recessive 86 37
2167 c DFN244 Deafness, Autosomal Recessive 42 36
2168 c DFN155 Deafness, Autosomal Dominant 41 34
2169 c INT403 Intellectual Developmental Disorder, X-Linked 21 34
2170 c DFN360 Deafness, Autosomal Dominant 69 34
2171 c DFN277 Deafness, Autosomal Recessive 102 33
2172 c DFN120 Deafness, Autosomal Recessive 39 33
2173 c DFN280 Deafness, Autosomal Recessive 33
2174 c DFN260 Deafness, Autosomal Recessive 89 33
2175 c DFN248 Deafness, Autosomal Recessive 18b 32
2176 c DFN254 Deafness, Autosomal Recessive 84b 31
2177 c DFN281 Deafness, Autosomal Recessive 103 30
2178 c DFN148 Deafness, Autosomal Dominant 16 29
2179 c DFN192 Deafness, Autosomal Dominant 23 29
2180 c DFN099 Deafness, Autosomal Dominant 2b 29
2181 c DFN118 Deafness, Autosomal Dominant 44 29
2182 c DFN183 Deafness, Autosomal Recessive 83 29
2183 c DFN119 Deafness, Autosomal Dominant 50 29
2184 INT518 Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures 29
2185 c DFN273 Deafness, Autosomal Recessive 101 28
2186 c INT434 Intellectual Developmental Disorder, X-Linked 12 28
2187 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
2188 MNG003 Mungan Syndrome 27
2189 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 27
2190 c DFN246 Deafness, Autosomal Dominant 51 27
2191 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 27
2192 c DFN152 Deafness, Autosomal Dominant 27 26
2193 c DFN257 Deafness, Autosomal Dominant 33 26
2194 ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 26
2195 c DFN030 Deafness, Autosomal Recessive 55 25
2196 c OTF001 Otof-Related Deafness 25
2197 c DFN173 Deafness, Autosomal Recessive 40 25
2198 c DFN271 Deafness, Autosomal Dominant 58 25
2199 c DFN169 Deafness, Autosomal Recessive 27 24
2200 c DFN162 Deafness, Autosomal Dominant 59 24
2201 c ATS528 Autosomal Recessive Nonsyndromic Deafness 70 24
2202 c DFN240 Deafness, Autosomal Recessive 96 24
2203 c DFN179 Deafness, Autosomal Recessive 62 24
2204 c DFN149 Deafness, Autosomal Dominant 18 24
2205 c DFN174 Deafness, Autosomal Recessive 44 23
2206 c DFN184 Deafness, Autosomal Recessive 85 23
2207 c DFN166 Deafness, Autosomal Recessive 17 23
2208 INT459 Intellectual Developmental Disorder, Autosomal Recessive 34, with Variant Lissencephaly 22
2209 NRD071 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 22
2210 c DFN160 Deafness, Autosomal Dominant 52 22
2211 c DFN151 Deafness, Autosomal Dominant 24 20
2212 c DFN029 Deafness, Autosomal Recessive 51 20
2213 c DFN333 Deafness, Autosomal Dominant 73 20
2214 c DFN171 Deafness, Autosomal Recessive 33 19
2215 c DFN165 Deafness, Autosomal Recessive 14 19
2216 c DFN164 Deafness, Autosomal Recessive 13 18
2217 c DFN368 Deafness, Autosomal Dominant 74 18
2218 c DFN167 Deafness, Autosomal Recessive 20 18
2219 c DFN180 Deafness, Autosomal Recessive 65 18
2220 c DFN158 Deafness, Autosomal Dominant 49 18
2221 c DFN243 Deafness, Autosomal Recessive 88 17
2222 c DFN154 Deafness, Autosomal Dominant 31 17
2223 c DFN272 Deafness, Autosomal Dominant 54 17
2224 c DFN161 Deafness, Autosomal Dominant 53 17
2225 c DFN381 Deafness, Autosomal Dominant 75 17
2226 c DFN156 Deafness, Autosomal Dominant 43 16
2227 c ATS490 Autosomal Dominant Nonsyndromic Deafness 77 16
2228 c DFN153 Deafness, Autosomal Dominant 30 16
2229 c ATS484 Autosomal Dominant Nonsyndromic Deafness 78 16
2230 c DFN261 Deafness, Autosomal Recessive 46 16
2231 c DFN157 Deafness, Autosomal Dominant 47 15
2232 c DFN172 Deafness, Autosomal Recessive 38 15
2233 c DFN182 Deafness, Autosomal Recessive 71 14
2234 c DFN175 Deafness, Autosomal Recessive 45 14
2235 c ATS487 Autosomal Dominant Nonsyndromic Deafness 74 13
2236 P RRD005 Rare Deafness 13
2237 c ATS485 Autosomal Dominant Nonsyndromic Deafness 79 6
2238 c ATS489 Autosomal Dominant Nonsyndromic Deafness 76 6
2239 c ATS488 Autosomal Dominant Nonsyndromic Deafness 75 6
2240 c ATS486 Autosomal Recessive Nonsyndromic Deafness 116 6
2241 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 5
2242 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 5
2243 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 5
2244 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 5
2245 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 5
2246 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 5
2247 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 5
2248 P FML018 Familial Mediterranean Fever 75
2249 ANX010 Anxiety 69
2250 P VSC007 Vascular Disease 64
2251 P LRG012 Large Congenital Melanocytic Nevus 53
2252 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 48
2253 HGH043 High Grade Glioma 47
2254 c PRV019 Periventricular Nodular Heterotopia 1 42
2255 BRK002 Birk-Barel Syndrome 39
2256 PLM039 Pulmonary Neuroendocrine Tumor 36
2257 MLL023 Mullegama-Klein-Martinez Syndrome 35
2258 c INT446 Intellectual Developmental Disorder, X-Linked 1 35
2259 c INT342 Intellectual Developmental Disorder, X-Linked 108 32
2260 c INT419 Intellectual Developmental Disorder, X-Linked 30 30
2261 c INT420 Intellectual Developmental Disorder, X-Linked 93 27
2262 c INT431 Intellectual Developmental Disorder, X-Linked 99 27
2263 HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
2264 c FML344 Familial Mediterranean Fever, Autosomal Dominant 26
2265 NRD150 Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features 26
2266 c INT439 Intellectual Developmental Disorder, X-Linked 104 26
2267 INT458 Intellectual Developmental Disorder, Autosomal Recessive 18, with or Without Epilepsy 25
2268 c INT442 Intellectual Developmental Disorder, X-Linked 106 25
2269 NRN006 Neuroendocrine Carcinoma of the Cervix 22
2270 c INT438 Intellectual Developmental Disorder, X-Linked 103 22
2271 c INT519 Intellectual Developmental Disorder, Autosomal Recessive 14 22
2272 c INT445 Intellectual Developmental Disorder, X-Linked 107 21
2273 NRD090 Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements 21
2274 JJN009 Jejunal Neuroendocrine Tumor 20
2275 c INT440 Intellectual Developmental Disorder, X-Linked 105 19
2276 c INT433 Intellectual Developmental Disorder, X-Linked 101 19
2277 c INT432 Intellectual Developmental Disorder, X-Linked 100 17
2278 EPL170 Epilepsy-Aphasia Spectrum 17
2279 c RRV009 Rare Vascular Disease 14
2280 c PRV013 Periventricular Nodular Heterotopia 3 13
2281 NRN043 Neuroendocrine Neoplasm of Esophagus 11
2282 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 10
2283 MTH089 Methylmalonic Aciduria and Homocystinuria, Cblx Type 48
2284 c ATS525 Autosomal Dominant Intellectual Developmental Disorder 8 38
2285 CBL011 Cebalid Syndrome 37
2286 c INT455 Intellectual Developmental Disorder, Autosomal Dominant 56 35
2287 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 35
2288 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 35
2289 EXT065 Extraosseous Ewing Sarcoma 35
2290 c INT557 Intellectual Developmental Disorder, Autosomal Dominant 48 32
2291 c DFN178 Deafness, Autosomal Recessive 59 31
2292 MMS001 Momo Syndrome 29
2293 INT437 Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted 28
2294 P NRN038 Neuronal Intestinal Dysplasia, Type B 27
2295 c INT562 Intellectual Developmental Disorder, Autosomal Dominant 54 27
2296 INT369 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 27
2297 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 27
2298 NRD052 Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures 25
2299 INT416 Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type 25
2300 c INT544 Intellectual Developmental Disorder, Autosomal Recessive 46 25
2301 PRS131 Prostate Cancer/brain Cancer Susceptibility 25
2302 c INT508 Intellectual Developmental Disorder, Autosomal Recessive 7 25
2303 c INT471 Intellectual Developmental Disorder, Autosomal Recessive 27 24
2304 c INT479 Intellectual Developmental Disorder, Autosomal Recessive 58 24
2305 NRN033 Neuroendocrine Tumor of the Colon 24
2306 c INT540 Intellectual Developmental Disorder, Autosomal Recessive 44 23
2307 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 23
2308 c INT468 Intellectual Developmental Disorder, Autosomal Recessive 66 23
2309 c ATS529 Autosomal Dominant Intellectual Developmental Disorder 40 22
2310 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 22
2311 c NNS083 Non-Syndromic X-Linked Intellectual Disability 1 22
2312 c INT474 Intellectual Developmental Disorder, Autosomal Recessive 43 22
2313 NRD060 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 22
2314 c INT565 Intellectual Developmental Disorder, Autosomal Recessive 64 21
2315 c INT423 Intellectual Developmental Disorder, X-Linked 96 21
2316 NRN045 Neuroendocrine Neoplasm of Appendix 20
2317 c SYN170 Syndromic X-Linked Intellectual Disability 94 20
2318 c INT429 Intellectual Developmental Disorder, X-Linked, Syndromic 32 19
2319 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 19
2320 c INT461 Intellectual Developmental Disorder, Autosomal Recessive 47 18
2321 c INT463 Intellectual Developmental Disorder, Autosomal Recessive 50 18
2322 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 17
2323 c INT465 Intellectual Developmental Disorder, Autosomal Recessive 52 17
2324 c INT470 Intellectual Developmental Disorder, X-Linked, Syndromic 7 17
2325 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 17
2326 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17
2327 c INT500 Intellectual Developmental Disorder, X-Linked, Syndromic 17 16
2328 INT501 Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type 16
2329 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 15
2330 c INT489 Intellectual Developmental Disorder, X-Linked 53 14
2331 OCL031 Oculo-Cerebral Dysplasia 9
2332 CHL176 Childhood Cns Choriocarcinoma 7
2333 MLG125 Malignant Mediastinal Neurogenic Neoplasm 6
2334 MRK001 Merkel Cell Carcinoma 67
2335 P ATT013 Attention Deficit-Hyperactivity Disorder 66
2336 c MLN065 Melanocytic Nevus Syndrome, Congenital 59
2337 P XRD029 Xeroderma Pigmentosum, Complementation Group a 57
2338 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
2339 CD4003 Cd40 Ligand Deficiency 56
2340 c XRD031 Xeroderma Pigmentosum, Complementation Group F 56
2341 GLT007 Glutathione Synthetase Deficiency 51
2342 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
2343 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 46
2344 c DFN247 Deafness, Autosomal Recessive 18a 42
2345 c DFN128 Deafness, Autosomal Dominant 36 42
2346 c DFN093 Deafness, Autosomal Recessive 23 42
2347 c DFN189 Deafness, Autosomal Dominant 25 42
2348 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
2349 c DFN139 Deafness, Autosomal Recessive 29 41
2350 c DFN112 Deafness, Autosomal Recessive 63 41
2351 c DFN107 Deafness, Autosomal Dominant 10 40
2352 c DFN143 Deafness, Autosomal Recessive 16 39
2353 c DFN130 Deafness, Autosomal Recessive 21 39
2354 c DFN092 Deafness, Autosomal Recessive 49 39
2355 c DFN267 Deafness, Autosomal Dominant 4a 39
2356 c DFN098 Deafness, Autosomal Dominant 3a 39
2357 c DFN170 Deafness, Autosomal Recessive 31 38
2358 c DFN262 Deafness, Autosomal Recessive 15 38
2359 c DFN351 Deafness, Autosomal Dominant 6 38
2360 c DFN102 Deafness, Autosomal Dominant 3b 38
2361 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
2362 c DFN190 Deafness, Autosomal Dominant 2a 38
2363 c PRR020 Perrault Syndrome 1 37
2364 c DFN202 Deafness, Autosomal Dominant 48 36
2365 c DFN159 Deafness, Autosomal Dominant 5 36
2366 c DFN354 Deafness, Autosomal Dominant 20 35
2367 CFL005 Cafe-Au-Lait Spots, Multiple 33
2368 c DFN132 Deafness, Autosomal Recessive 22 33
2369 c DFN137 Deafness, Autosomal Dominant 13 33
2370 c SPS025 Spastic Paraplegia 15 32
2371 c DFN121 Deafness, Autosomal Recessive 28 32
2372 c DFN188 Deafness, Autosomal Recessive 61 32
2373 c DFN255 Deafness, Autosomal Dominant 64 31
2374 c DFN094 Deafness, Autosomal Dominant 28 31
2375 SQL002 Squalene Synthase Deficiency 29
2376 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 29
2377 PRR044 Poirier-Bienvenu Neurodevelopmental Syndrome 27
2378 NRD039 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 27
2379 c PRR022 Perrault Syndrome 2 26
2380 FCL093 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 25
2381 c PRR026 Perrault Syndrome 5 25
2382 c DFN258 Deafness, Autosomal Recessive 48 24
2383 c DFN138 Deafness, Autosomal Recessive 53 24
2384 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 24
2385 NRD104 Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities 23
2386 PGN002 Paganini-Miozzo Syndrome 22
2387 NRD142 Neurodevelopmental Disorder with Hearing Loss and Spasticity 22
2388 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 21
2389 c PRR033 Perrault Syndrome 6 21
2390 INT569 Intellectual Developmental Disorder with or Without Peripheral Neuropathy 20
2391 LBR039 Leber Hereditary Optic Neuropathy, Autosomal Recessive 19
2392 c ATT025 Attention Deficit-Hyperactivity Disorder 8 14
2393 c ATT021 Attention Deficit-Hyperactivity Disorder 3 13
2394 c ATT020 Attention Deficit-Hyperactivity Disorder 2 12
2395 c ATT019 Attention Deficit-Hyperactivity Disorder 1 12
2396 c ATT022 Attention Deficit-Hyperactivity Disorder 4 11
2397 P HRS035 Hirschsprung Disease 1 69
2398 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 69
2399 P HYP086 Hypothyroidism 68
2400 P CNG042 Congenital Central Hypoventilation Syndrome 67
2401 c ORF037 Orofaciodigital Syndrome I 64
2402 c CNG006 Congenital Hypothyroidism 64
2403 c CNT119 Central Hypoventilation Syndrome, Congenital, 1 62
2404 P NTR004 Neutropenia 61
2405 c ORF040 Orofaciodigital Syndrome Viii 59
2406 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 58
2407 c SVR003 Severe Congenital Neutropenia 58
2408 P BPL003 Bipolar Disorder 57
2409 P LMB006 Limb-Girdle Muscular Dystrophy 56
2410 c XRD023 Xeroderma Pigmentosum, Complementation Group G 54
2411 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 51
2412 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
2413 SMT006 Somatoform Disorder 50
2414 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 50
2415 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
2416 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 49
2417 c ORF035 Orofaciodigital Syndrome Iv 49
2418 P ORF001 Orofaciodigital Syndrome 49
2419 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
2420 CRY008 Cryopyrin-Associated Periodic Syndrome 48
2421 c ORF033 Orofaciodigital Syndrome V 47
2422 c BPL002 Bipolar I Disorder 47
2423 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 47
2424 P THY061 Thyroid Dyshormonogenesis 2a 46
2425 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 46
2426 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 46
2427 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 46
2428 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 45
2429 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 44
2430 c FML297 Familial Thyroid Dyshormonogenesis 44
2431 c SVR107 Severe Congenital Neutropenia 3 44
2432 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 43
2433 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 43
2434 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 43
2435 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43
2436 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
2437 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 42
2438 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 41
2439 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 41
2440 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 40
2441 c ORF038 Orofaciodigital Syndrome Iii 40
2442 c HRS036 Hirschsprung Disease 2 40
2443 c SVR110 Severe Congenital Neutropenia 4 39
2444 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 39
2445 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 38
2446 c ORF043 Orofaciodigital Syndrome Ix 38
2447 c INT516 Intellectual Developmental Disorder, Autosomal Dominant 5 37
2448 P ATS366 Autism X-Linked 2 37
2449 c SVR106 Severe Congenital Neutropenia 5 37
2450 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
2451 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 37
2452 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 36
2453 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
2454 c THY071 Thyroid Dyshormonogenesis 1 36
2455 c THY063 Thyroid Dyshormonogenesis 4 36
2456 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 36
2457 ANR009 Aneurysmal Bone Cysts 35
2458 c THY056 Thyroid Dyshormonogenesis 3 35
2459 c THY110 Thyroid Dyshormonogenesis 6 35
2460 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 34
2461 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 34
2462 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 33
2463 c CRB099 Cerebrooculofacioskeletal Syndrome 3 33
2464 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
2465 c ORF036 Orofaciodigital Syndrome Xiv 31
2466 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31
2467 c SVR104 Severe Congenital Neutropenia 7 31
2468 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
2469 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
2470 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
2471 CNG545 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 30
2472 INT441 Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type 29
2473 DVL024 Developmental Delay with or Without Dysmorphic Facies and Autism 29
2474 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
2475 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
2476 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 28
2477 c ORF041 Orofaciodigital Syndrome X 28
2478 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 28
2479 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
2480 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 27
2481 c INT563 Intellectual Developmental Disorder, Autosomal Dominant 57 27
2482 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 27
2483 c INT517 Intellectual Developmental Disorder, Autosomal Recessive 13 27
2484 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 27
2485 c ATS367 Autism X-Linked 3 26
2486 c THY062 Thyroid Dyshormonogenesis 5 26
2487 c CNT101 Central Congenital Hypothyroidism 26
2488 c INT447 Intellectual Developmental Disorder, X-Linked 9 26
2489 c INT545 Intellectual Developmental Disorder, Autosomal Recessive 48 26
2490 c ORF042 Orofaciodigital Syndrome Xi 26
2491 NRD109 Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies 26
2492 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 26
2493 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
2494 c ORF046 Orofaciodigital Syndrome Xvi 25
2495 c HRS029 Hirschsprung Disease 4 25
2496 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 25
2497 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
2498 NRD084 Neurodevelopmental Disorder with Absent Language and Variable Seizures 25
2499 c INT413 Intellectual Developmental Disorder, X-Linked 63 25
2500 c ORF051 Orofaciodigital Syndrome Xvii 25
2501 c SVR108 Severe Congenital Neutropenia 6 25
2502 INT383 Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type 25
2503 c ORF052 Orofaciodigital Syndrome Xviii 25
2504 NRD072 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 25
2505 NRD120 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 24
2506 c HRS034 Hirschsprung Disease 3 24
2507 c ATS365 Autism X-Linked 1 24
2508 c INT400 Intellectual Developmental Disorder, Autosomal Dominant 65 24
2509 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 24
2510 c INT478 Intellectual Developmental Disorder, Autosomal Recessive 57 24
2511 c ORF045 Orofaciodigital Syndrome Xv 24
2512 c INT426 Intellectual Developmental Disorder, X-Linked 41 24
2513 c INT477 Intellectual Developmental Disorder, Autosomal Recessive 74 24
2514 NRD144 Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia 24
2515 ALZ064 Alzahrani-Kuwahara Syndrome 24
2516 INT570 Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features 24
2517 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 23
2518 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 23
2519 NRD069 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 23
2520 EPL253 Epilepsy, Early-Onset, with or Without Developmental Delay 23
2521 c INT484 Intellectual Developmental Disorder, Autosomal Recessive 1 23
2522 NRD066 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 22
2523 c MSC202 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 22
2524 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 22
2525 DFN389 Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy 22
2526 RCH010 Richieri-Costa/guion-Almeida Syndrome 22
2527 c NTR045 Neutropenia, Chronic Familial 22
2528 c INT398 Intellectual Developmental Disorder, Autosomal Recessive 12 22
2529 c INT452 Intellectual Developmental Disorder, Autosomal Recessive 6 22
2530 c INT406 Intellectual Developmental Disorder, X-Linked 58 22
2531 c INT575 Intellectual Developmental Disorder, Autosomal Dominant 67 22
2532 MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 22
2533 STB004 Setbp1 Haploinsufficiency Disorder 22
2534 c INT480 Intellectual Developmental Disorder, Autosomal Recessive 73 21
2535 RLN005 Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked 21
2536 c ORF039 Orofaciodigital Syndrome Vii 21
2537 BRN151 Brunet-Wagner Neurodevelopmental Syndrome 20
2538 NRD170 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment 20
2539 CRP038 Corpus Callosum, Agenesis of, with Impaired Intellectual Development, Ocular Coloboma, and Micrognathia 20
2540 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 20
2541 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 20
2542 c SVR103 Severe Congenital Neutropenia 1 20
2543 c TSS007 Tessadori-Van Haaften Neurodevelopmental Syndrome 2 19
2544 c INT512 Intellectual Developmental Disorder, Autosomal Recessive 4 19
2545 c PRM316 Primary Congenital Hypothyroidism 19
2546 c TSS008 Tessadori-Van Haaften Neurodevelopmental Syndrome 3 19
2547 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 18
2548 c INT541 Intellectual Developmental Disorder, Autosomal Recessive 45 18
2549 c TSS009 Tessadori-Van Haaften Neurodevelopmental Syndrome 4 17
2550 c HRS027 Hirschsprung Disease 5 17
2551 c ACQ053 Acquired Neutropenia 17
2552 DFN398 Deafness, Autosomal Recessive 70, with or Without Adult-Onset Neurodegeneration 17
2553 NRD177 Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia 17
2554 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
2555 DVL144 Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders 17
2556 NRD178 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities 17
2557 NRD157 Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures 16
2558 c TRN047 Transient Congenital Hypothyroidism 16
2559 c ATS177 Autism X-Linked 5 16
2560 c SVR105 Severe Congenital Neutropenia 2 16
2561 NRD168 Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures 15
2562 THY092 Thymic Neuroendocrine Carcinoma 15
2563 NRD165 Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures 15
2564 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
2565 NRD171 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties 14
2566 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
2567 c INT511 Intellectual Developmental Disorder, Autosomal Recessive 11 14
2568 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
2569 c ELN001 Elane-Related Neutropenia 13
2570 c ORF054 Orofaciodigital Syndrome Xix 13
2571 c ORF006 Orofaciodigital Syndrome 13 13
2572 c ORF005 Orofaciodigital Syndrome 12 13
2573 c HRS024 Hirschsprung Disease 9 13
2574 c HRS026 Hirschsprung Disease 7 13
2575 c HRS028 Hirschsprung Disease 6 13
2576 NRD167 Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay 12
2577 c HRS025 Hirschsprung Disease 8 12
2578 c RRH009 Rare Hypothyroidism 12
2579 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 8
2580 c ATS531 Autosomal Recessive Intellectual Developmental Disorder 75 6
2581 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
2582 c HYP232 Hypothyroidism Due to Iodide Transport Defect 5
2583 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
2584 c ATS530 Autosomal Recessive Intellectual Developmental Disorder 34 5
2585 c RRD014 Rare Adult Hypothyroidism 4
2586 c BPL001 Bipolar Ll Disorder 4
2587 c MCL042 Macular Degeneration, Age-Related, 1 82
2588 LPT014 Leptin Deficiency or Dysfunction 78
2589 P PRS038 Personality Disorder 63
2590 P OST001 Osteopetrosis 63
2591 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 61
2592 P SNS001 Sensorineural Hearing Loss 59
2593 c OST131 Osteopetrosis, Autosomal Dominant 2 58
2594 c OST163