Neuronal Diseases Category (7450 diseases)


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

# Family MCID Name MIFTS
1 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 34
2 NRT001 Neurotic Disorder 56
3 RYN006 Raynaud-Claes Syndrome 29
4 NRF026 Neurofibromatosis, Type Iv, of Riccardi 24
5 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 34
6 BLM002 Bulimia Nervosa 56
7 NRF008 Neurofibromatosis-Noonan Syndrome 56
8 MLN001 Melanotic Neuroectodermal Tumor 33
9 NRD085 Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures 22
10 LGS001 Legius Syndrome 60
11 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 42
12 CLR029 Clark-Baraitser Syndrome 49
13 P GST047 Gastrointestinal Neuroendocrine Tumor 36
14 DVL031 Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects 26
15 BSL048 Basilicata-Akhtar Syndrome 24
16 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 18
17 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 47
18 ATX010 Ataxia Neuropathy Spectrum 36
19 SML004 Small Intestine Neuroendocrine Neoplasm 27
20 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 25
21 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 23
22 OBS002 Obsessive-Compulsive Disorder 67
23 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
24 P FML012 Familial Partial Lipodystrophy 54
25 c LPD021 Lipodystrophy, Familial Partial, Type 3 45
26 c LPD019 Lipodystrophy, Partial, Acquired 43
27 c LPD034 Lipodystrophy, Familial Partial, Type 4 42
28 c LPD030 Lipodystrophy, Familial Partial, Type 5 40
29 c LPD036 Lipodystrophy, Familial Partial, Type 6 33
30 c LPD040 Lipodystrophy, Familial Partial, Type 1 32
31 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
32 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 15
33 NSC005 Nescav Syndrome 40
34 NRN016 Neuronal Migration Disorders 40
35 46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 34
36 NRD105 Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities 22
37 SZR029 Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications 21
38 ANR007 Anorexia Nervosa 59
39 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 53
40 NRN001 Neuroendocrine Carcinoma 47
41 RCT005 Rectum Neuroendocrine Neoplasm 35
42 LRY013 Laryngeal Neuroendocrine Tumor 30
43 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 29
44 NRG006 Neurogenic Thoracic Outlet Syndrome 27
45 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 26
46 ART164 Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect 24
47 ANL010 Anal Neuroendocrine Tumor 19
48 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 7
49 CHL005 Childhood Mediastinal Neurogenic Tumor 6
50 CHR174 Christianson Syndrome 47
51 CNV002 Conversion Disorder 47
52 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 41
53 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
54 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 19
55 NRD118 Neurodevelopmental Disorder with or Without Autism or Seizures 16
56 NRD117 Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities 15
57 NRD114 Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities 14
58 BCH004 Bachmann-Bupp Syndrome 31
59 NRG003 Neurogenic Arthropathy 42
60 P ATS366 Autism X-Linked 2 41
61 KHR001 Kahrizi Syndrome 33
62 BRN049 Brain Tumor, Childhood 28
63 ESP009 Esophageal Neuroendocrine Tumor 25
64 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 19
65 NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 15
66 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 15
67 HND013 Handl Syndrome 14
68 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44
69 ABC001 Abcd Syndrome 44
70 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 38
71 TNN015 Tonne-Kalscheuer Syndrome 30
72 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 23
73 ART166 Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum 22
74 CLN039 Cln4 Disease 18
75 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 29
76 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 29
77 MLL023 Mullegama-Klein-Martinez Syndrome 29
78 c CNT068 Central Pain Syndrome 28
79 BRN142 Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis 27
80 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 26
81 NRD099 Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity 24
82 NRD039 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 24
83 NRD067 Neurodevelopmental Disorder with or Without Variable Brain Abnormalities 23
84 NRD081 Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 23
85 NRD061 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 23
86 NRD073 Neurodevelopmental Disorder with Visual Defects and Brain Anomalies 23
87 NRD092 Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis 22
88 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 22
89 NRD108 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 21
90 NRD095 Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities 20
91 MNT107 Mental Retardation, Fra12a Type 20
92 ECT113 Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies 19
93 NRD093 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 19
94 KRK002 Karak Syndrome 17
95 NRF027 Neurofacioskeletal Syndrome with or Without Renal Agenesis 15
96 END088 Endove Syndrome, Limb-Brain Type 14
97 ADS006 Aids - Neurological Complications 11
98 P FTL001 Fetal Alcohol Syndrome 55
99 NRS003 Neurosyphilis 45
100 c FTL006 Fetal Alcohol Spectrum Disorder 43
101 INT372 Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type 32
102 HRT037 Heart and Brain Malformation Syndrome 32
103 AMY005 Amyloid Neuropathy 31
104 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 30
105 HNM002 Hinman Syndrome 29
106 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 26
107 NRD059 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 24
108 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
109 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 22
110 NRD082 Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies 20
111 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 20
112 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 17
113 c GRN056 Grin1-Related Neurodevelopmental Disorder 13
114 CNG458 Congenital Abducens Nerve Palsy 10
115 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
116 BNP001 Bone Peripheral Neuroepithelioma 9
117 P VSC017 Visceral Neuropathy Familial 7
118 CLS051 Classic Neuroendocrine Tumor of Appendix 6
119 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 6
120 LPS008 Lupus - Neurological Sequelae 3
121 GLM045 Glioma 62
122 AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58
123 WRN002 Wernicke-Korsakoff Syndrome 49
124 MNN028 Mononeuropathy of the Median Nerve, Mild 47
125 SPN020 Spondylosis 46
126 NRT011 Neurotrophic Keratopathy 36
127 CHR655 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 32
128 NRF016 Neurofibromatosis, Familial Spinal 29
129 P PRR032 Pura-Related Neurodevelopmental Disorders 26
130 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 26
131 PRF003 Piriformis Syndrome 25
132 GNT184 Genitourinary and/or Brain Malformation Syndrome 25
133 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 25
134 NRD107 Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia 23
135 PGN002 Paganini-Miozzo Syndrome 21
136 NRD079 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 21
137 NRD071 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 21
138 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 21
139 NRD115 Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities 21
140 NRD089 Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies 20
141 NRD070 Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies 19
142 NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 19
143 NRD090 Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements 19
144 NRD112 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 19
145 c GRN052 Grin2b-Related Neurodevelopmental Disorder 18
146 NRD113 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 17
147 NRD111 Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy 16
148 NRD110 Neurodevelopmental Disorder with Seizures and Brain Atrophy 16
149 CRN305 Corneal Neuropathic Disease 8
150 LYM055 Lyme Disease - Neurological Complications 6
151 MDS014 Mediastinum Neuroblastoma 5
152 ATN005 Autonomic Dysfunction 45
153 P HYP265 Hypotonia 42
154 HYD065 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 34
155 BRS005 Breast Neuroendocrine Neoplasm 31
156 ALC002 Alcohol-Related Neurodevelopmental Disorder 30
157 SPN185 Spinal Cord Infarction 28
158 NRD029 Neurodevelopmental Disorder with Involuntary Movements 25
159 NRD052 Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures 24
160 c BRN141 Brain Small Vessel Disease 3 23
161 NRD096 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 22
162 MGR035 Migraine with Brainstem Aura 22
163 LKN030 Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome 22
164 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 21
165 NRD097 Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 21
166 EPL170 Epilepsy-Aphasia Spectrum 21
167 c INT398 Intellectual Developmental Disorder, Autosomal Recessive 12 20
168 NRM024 Neuromuscular Oculoauditory Syndrome 20
169 NRD060 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 19
170 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 18
171 FLP002 Floppy Infant Syndrome 13
172 CLP007 Clpb Deficiency 13
173 BRN069 Brain and Spinal Tumors 11
174 c CL4005 Col4a1-Related Brain Small-Vessel Disease 7
175 P SYP003 Syphilis 59
176 HMR039 Hemorrhage, Intracerebral 57
177 APH002 Aphasia 55
178 c CRN278 Craniosynostosis 1 55
179 APR001 Apraxia 51
180 CRB090 Cerebral Hypoxia 42
181 c CNG033 Congenital Syphilis 39
182 SPN050 Spinocerebellar Degeneration 38
183 DSN001 De Sanctis-Cacchione Syndrome 38
184 c SCN006 Secondary Syphilis 36
185 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36
186 HYP264 Hypertonia 35
187 c LTC001 Late Congenital Syphilis 34
188 c ERL002 Early Congenital Syphilis 32
189 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 32
190 c PRM022 Primary Syphilis 32
191 NRG001 Neurogenic Bowel 31
192 PRM205 Primary Hepatic Neuroendocrine Carcinoma 30
193 P BRN140 Brain Small Vessel Disease 2 30
194 NRD080 Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities 28
195 CLN014 Colon Neuroendocrine Neoplasm 27
196 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26
197 PRS017 Prostate Neuroendocrine Neoplasm 26
198 SPN424 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 25
199 INT369 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 25
200 PRP102 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 24
201 NRD086 Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia 24
202 P NBS002 Nabais Sa-De Vries Syndrome, Type 2 23
203 MYC075 Myoclonus, Intractable, Neonatal 23
204 NRD106 Neurodegeneration, Infantile-Onset, Biotin-Responsive 23
205 PRS131 Prostate Cancer/brain Cancer Susceptibility 23
206 NRD094 Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation 23
207 NRD088 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 22
208 SRB001 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy 21
209 ILL008 Ileal Neuroendocrine Tumor 20
210 c NBS001 Nabais Sa-De Vries Syndrome, Type 1 20
211 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
212 NRD098 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures 19
213 CNG362 Congenital Trochlear Nerve Palsy 16
214 DPB002 Deep Brain Stimulation for Movement Disorders 16
215 PRN063 Peroneal Nerve, Accessory Deep 15
216 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 15
217 CNG457 Congenital Oculomotor Nerve Palsy 14
218 NRH002 Neurohypophysis Granular Cell Tumor 14
219 EFV001 Efavirenz, Poor Metabolism of 14
220 JJN009 Jejunal Neuroendocrine Tumor 14
221 MFN001 Mfn2 Hereditary Motor and Sensory Neuropathy 13
222 NRD123 Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia 13
223 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 13
224 RRR001 Rere-Related Disorders 12
225 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 12
226 CLL024 Colloid Cysts of Third Ventricle 11
227 c MCR373 Mecr-Related Neurologic Disorder 11
228 c MNT313 Mental Health Wellness 2 10
229 PRP096 Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 9
230 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
231 SFT001 Soft Tissue Peripheral Neuroepithelioma 7
232 NRN043 Neuroendocrine Neoplasm of Esophagus 7
233 GJB007 Gjb1 Disorders: Charcot Marie Tooth Neuropathy and Central Nervous System Phenotypes 6
234 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 6
235 ARN002 Arnold Stickler Bourne Syndrome 4
236 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 4
237 MBS003 Moebius Axonal Neuropathy Hypogonadism 4
238 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 3
239 P NRL026 Neurological Channelopathy of the Central Nervous System Due to a Genetic Chloride Channel Defect 2
240 c NRL032 Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect 2
241 c NRL033 Neurological Channelopathy of the Central Nervous System Due to a Genetic Acetylcholine Receptor Defect 2
242 c NRL034 Neurological Channelopathy of the Central Nervous System Due to a Genetic Gaba Receptor Defect 2
243 GNT173 Genetic Neurological Channelopathy of the Central Nervous System 2
244 c NRL035 Neurological Channelopathy of the Central Nervous System Due to a Genetic Sodium Channel Defect 2
245 c NRL036 Neurological Channelopathy of the Central Nervous System Due to a Genetic Calcium Channel Defect 2
246 c NRL037 Neurological Channelopathy of the Central Nervous System Due to a Genetic Potassium Channel Defect 2
247 OCL069 Ocular Motor Apraxia 57
248 P CTR177 Citrullinemia, Type Ii, Adult-Onset 56
249 PST048 Postural Orthostatic Tachycardia Syndrome 46
250 PYR037 Pyruvate Carboxylase Deficiency 45
251 LPD009 Lipid Storage Disease 45
252 c CRN320 Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects 40
253 MGC007 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 32
254 CHR554 Chromosome 17q11.2 Deletion Syndrome 30
255 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 30
256 CBL011 Cebalid Syndrome 29
257 OKR001 Okur-Chung Neurodevelopmental Syndrome 29
258 SQL002 Squalene Synthase Deficiency 27
259 XLN162 X-Linked Intellectual Disability, Najm Type 27
260 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 27
261 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 26
262 NRD054 Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 25
263 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 25
264 c ALP109 Alopecia-Mental Retardation Syndrome 4 24
265 NRD083 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies 24
266 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 24
267 LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 24
268 MLT178 Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked 24
269 SPR032 Superficial Siderosis of the Central Nervous System 23
270 STR112 Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis 23
271 NRD062 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 22
272 NRD063 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 22
273 CLP002 Colpocephaly 22
274 NRD072 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 22
275 NRD069 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 22
276 PRR044 Poirier-Bienvenu Neurodevelopmental Syndrome 22
277 NRD068 Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia 22
278 MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 21
279 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 21
280 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 21
281 INT374 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures 20
282 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 20
283 MCR371 Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 20
284 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 20
285 NRD066 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 20
286 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 19
287 NRD104 Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities 19
288 INT391 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 19
289 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 19
290 P ALP110 Alopecia-Mental Retardation Syndrome 19
291 NRD078 Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity 19
292 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 18
293 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 18
294 DVL111 Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy 17
295 NRD119 Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism 16
296 NRD122 Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia 15
297 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
298 NRD121 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 14
299 LCL011 Localized Hypertrophic Neuropathy 14
300 NRD116 Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy 14
301 HTT003 Hiatt-Neu-Cooper Neurodevelopmental Syndrome 13
302 KLM001 Klumpke Paralysis 12
303 c ADL083 Adult-Onset Citrullinemia Type I 11
304 ATS241 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons 7
305 LBR037 Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns 4
306 P CRN037 Craniosynostosis 67
307 P MTR004 Maturity-Onset Diabetes of the Young 66
308 CLF027 Cleft Palate, Isolated 64
309 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62
310 PTS001 Patau Syndrome 55
311 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
312 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
313 ACR041 Acromelic Frontonasal Dysostosis 53
314 CVR006 Cavernous Hemangioma 51
315 P CHR345 Chronic Pain 50
316 BRN071 Brain Injury 50
317 ASP004 Asphyxia Neonatorum 50
318 LRN003 Learning Disability 49
319 ALK024 Alkuraya-Kucinskas Syndrome 46
320 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
321 P BRB001 Beriberi 44
322 CMB011 Combined Malonic and Methylmalonic Aciduria 43
323 P CRN321 Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects 42
324 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 42
325 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
326 DPR002 Depersonalization Disorder 41
327 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 41
328 MLY001 Molybdenum Cofactor Deficiency 40
329 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
330 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 39
331 PRS063 Paresthesia 39
332 P DYS021 Dysautonomia 38
333 BRN134 Brain Malformations with or Without Urinary Tract Defects 38
334 SWL001 Swallowing Disorders 37
335 c CRN277 Craniosynostosis 2 37
336 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 36
337 FTD001 Foot Drop 36
338 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
339 CMB002 Combat Disorder 33
340 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 32
341 c CRN281 Craniosynostosis 7 30
342 c CRN221 Craniosynostosis 4 30
343 CMB064 Combined Oxidative Phosphorylation Deficiency 24 29
344 CNG545 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 29
345 CMB041 Combined Oxidative Phosphorylation Deficiency 13 29
346 DVL024 Developmental Delay with or Without Dysmorphic Facies and Autism 27
347 c CRN217 Craniosynostosis 3 26
348 SNJ003 Snijders Blok-Fisher Syndrome 25
349 c CRN256 Craniosynostosis 6 24
350 WCK004 Wieacker-Wolff Syndrome, Female-Restricted 24
351 NRD077 Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies 24
352 SHK002 Shukla-Vernon Syndrome 22
353 AMY018 Amyotonia Congenita 22
354 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 22
355 c INT388 Intellectual Developmental Disorder, Autosomal Dominant 62 21
356 c CHD006 Chd2-Related Neurodevelopmental Disorders 21
357 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 21
358 NRD109 Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies 21
359 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 21
360 EPL253 Epilepsy, Early-Onset, with or Without Developmental Delay 21
361 CNT067 Central Cord Syndrome 21
362 NRD084 Neurodevelopmental Disorder with Absent Language and Variable Seizures 20
363 NRD053 Neurodevelopmental Disorder with Spasticity and Poor Growth 20
364 HYD066 Hydrocephalus, Congenital, 3, with Brain Anomalies 20
365 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 20
366 NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 20
367 CRB089 Cerebral Beriberi 19
368 MNS002 Mini Stroke 19
369 RTR023 Retroperitoneal Neuroblastoma 19
370 NRD076 Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly 19
371 BBB001 Bobble-Head Doll Syndrome 19
372 CMB101 Combined Oxidative Phosphorylation Deficiency 45 18
373 MTC224 Mitochondrial Complex Iv Deficiency, Nuclear Type 17 18
374 ABS003 Absence of Septum Pellucidum 18
375 RTN207 Retinopathy, Pigmentary, and Mental Retardation 18
376 c CRB140 Cerebral Palsy, Spastic Quadriplegic, 2 18
377 BRS024 Breast Large Cell Neuroendocrine Carcinoma 18
378 NRD055 Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 17
379 VCL007 Vocal Cord Paralysis and Ptosis 17
380 c INT386 Intellectual Developmental Disorder, Autosomal Dominant 59 17
381 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 16
382 SYR007 Syringohydromyelia 15
383 ALZ064 Alzahrani-Kuwahara Syndrome 15
384 PST054 Postinfectious Encephalomyelitis 15
385 NRP070 Neuropathy, Hereditary Motor, with Myopathic Features 14
386 OCL083 Oculogastrointestinal Neurodevelopmental Syndrome 13
387 c DYS194 Dysautonomia-Like Disorder 12
388 INT090 Intellectual Deficit Buenos-Aires Type 11
389 STB003 Setbp1 Disorder 11
390 ALD006 Aldred Syndrome 10
391 KRS005 Korsakoff's Amnesic Syndrome 9
392 c INT400 Intellectual Developmental Disorder, Autosomal Dominant 65 9
393 MLT076 Multiple System Atrophy with Orthostatic Hypotension 9
394 PLT009 Pili Torti Developmental Delay Neurological Abnormalities 8
395 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
396 SCR027 Sacral Nerve Root Cysts 7
397 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
398 c CRN093 Craniosynostosis Autosomal Dominant 3
399 NRL011 Neurological Consequences of Cytomegalovirus Infection 2
400 FCS002 Fucosidosis 61
401 P HMN010 Hemangioma 61
402 PTT041 Pituitary Stalk Interruption Syndrome 54
403 P DBT005 Diabetes Insipidus 54
404 ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49
405 CLB026 Colobomatous Microphthalmia 48
406 HYP016 Hypochondriasis 47
407 P PLL002 Pellagra 46
408 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 45
409 TRN022 Transcobalamin Ii Deficiency 44
410 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 43
411 HYP648 Hypertension and Brachydactyly Syndrome 42
412 BDY001 Body Dysmorphic Disorder 40
413 OHT001 Ohtahara Syndrome 39
414 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 38
415 P PRS013 Prosopagnosia 37
416 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 36
417 DYS003 Dysgraphia 35
418 7Q1002 7q11.23 Duplication Syndrome 33
419 MLD017 Mal De Debarquement Syndrome 33
420 PRS064 Persistent Vegetative State 33
421 ENC065 Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 33
422 THY108 Thymic Neuroendocrine Tumor 32
423 PCH002 Pachygyria 31
424 GBM001 Gaba Aminotransferase Deficiency 31
425 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 29
426 CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 29
427 CVR010 Cavernous Malformation 29
428 BRN137 Bronchial Neuroendocrine Tumor 29
429 INT333 Intellectual Developmental Disorder with Autism and Speech Delay 28
430 GNT004 Gnathomiasis 28
431 DDN005 Duodenal Somatostatinoma 28
432 SNJ002 Snijders Blok-Campeau Syndrome 28
433 HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 28
434 CHR506 Choroideremia, Deafness, and Mental Retardation 27
435 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 27
436 PRV020 Periventricular Heterotopia with Microcephaly, Autosomal Recessive 26
437 P CRB125 Cerebral Palsy, Spastic Quadriplegic, 1 26
438 SHS001 Shashi-Pena Syndrome 26
439 CMB078 Combined Oxidative Phosphorylation Deficiency 32 25
440 GLY094 Glycine Encephalopathy with Normal Serum Glycine 25
441 JBR046 Jaberi-Elahi Syndrome 25
442 CRB205 Cerebellar Atrophy with Seizures and Variable Developmental Delay 24
443 LSS039 Lissencephaly 6 with Microcephaly 24
444 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 24
445 c ATS358 Autism X-Linked 6 24
446 c HRD156 Hereditary Central Diabetes Insipidus 24
447 CHL150 Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter 24
448 c ATS268 Autism X-Linked 4 23
449 SPN187 Spinocerebellar Atrophy 23
450 PRS053 Parsonage Turner Syndrome 22
451 NZN001 Nizon-Isidor Syndrome 22
452 c PRS058 Prosopagnosia, Hereditary 22
453 HLP032 Holoprosencephaly 13, X-Linked 22
454 INT371 Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type 22
455 CLC058 Clcn2-Related Leukoencephalopathy 22
456 INT378 Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures 22
457 DDN028 Duodenal Neuroendocrine Tumor 22
458 NRP027 Neuropathy, Painful 21
459 MNN022 Meningoencephalocele 21
460 c INF065 Infantile Hypotonia 21
461 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 21
462 HRS002 Hersh Podruch Weisskopk Syndrome 21
463 ILL003 Illum Syndrome 21
464 c CRN216 Craniosynostosis 5 21
465 URM001 Uremic Neuropathy 20
466 P NNP004 Nonphotosensitive Trichothiodystrophy 20
467 INT110 Intracranial Cysts 20
468 c ACQ004 Acquired Hemangioma 20
469 KNN010 Kennerknecht Syndrome 20
470 MTC220 Mitochondrial Complex Iv Deficiency, Nuclear Type 12 20
471 SPN086 Spinal Intradural Arachnoid Cysts 19
472 GNT023 Gnathostoma Infection 19
473 LGH020 Li-Ghorbani-Weisz-Hubshman Syndrome 19
474 JJN001 Jejunal Somatostatinoma 19
475 RSS027 Russell-Silver Syndrome, X-Linked 19
476 MTC217 Mitochondrial Complex Iv Deficiency, Nuclear Type 8 19
477 MTC223 Mitochondrial Complex Iv Deficiency, Nuclear Type 16 19
478 INT347 Intellectual Developmental Disorder with Severe Speech and Ambulation Defects 19
479 c CNG578 Congenital Hemangioma 18
480 INT387 Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures 18
481 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 18
482 HRS003 Hirschsprung Disease Ganglioneuroblastoma 18
483 EXT039 Extrapontine Myelinolysis 18
484 HYP707 Hypertrophic Olivary Degeneration 18
485 c ACQ034 Acquired Central Diabetes Insipidus 18
486 c MLG144 Malignant Hemangioma 18
487 c INT393 Intellectual Developmental Disorder, Autosomal Dominant 64 17
488 c PLL014 Pellagra-Like Syndrome 17
489 IDP081 Idiopathic Hypertrophic Pachymeningitis 17
490 MTC228 Mitochondrial Complex Iv Deficiency, Nuclear Type 21 17
491 SNR002 Sener Syndrome 17
492 IDP022 Idiopathic Spinal Cord Herniation 17
493 CRB053 Cerebellar Agenesis 16
494 MTC229 Mitochondrial Complex Ii Deficiency, Nuclear Type 2 16
495 ACT235 Acute Macular Neuroretinopathy 16
496 MSP003 Misophonia 16
497 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 16
498 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 16
499 c ALP063 Alopecia-Mental Retardation Syndrome 3 16
500 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 15
501 GLL034 Gallbladder Neuroendocrine Tumor 15
502 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
503 PNF002 Painful Legs and Moving Toes Syndrome 14
504 BRL013 Baralle-Macken Syndrome 14
505 P ATP015 Atp1a3-Related Neurologic Disorders 13
506 CRM012 Cree Mental Retardation Syndrome 13
507 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 13
508 ERB002 Erb's Palsy 13
509 OCL024 Ocular Neuromyotonia 13
510 INF124 Infundibulo-Neurohypophysitis 13
511 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 13
512 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 13
513 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
514 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 13
515 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 13
516 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 12
517 NTR055 Ntrk1 Congenital Insensitivity to Pain with Anhidrosis 12
518 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 12
519 CCH008 Cochlear Nerve Deficiency 12
520 SCL044 Scalp Syndrome 12
521 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
522 MND028 Mandibulofacial Dysostosis with Mental Retardation 12
523 NRN032 Neuroendocrine Tumor of Anal Canal 12
524 CHR628 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 12
525 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
526 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 11
527 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
528 INT390 Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies 11
529 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 11
530 c SVR109 Severe Congenital Neutropenia 8 11
531 RCR030 Recurrent Idiopathic Neuroretinitis 11
532 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 11
533 SPN388 Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 11
534 NRV013 Nerve Growth Factor, Alpha Subunit 11
535 NRL021 Neurologic Disease, Infantile Multisystem, with Osseous Fragility 10
536 GNT082 Genetic Neuromuscular Disease 10
537 MDN009 Median-Ulnar Nerve Communications 10
538 c DDX004 Ddx3x-Related Neurodevelopmental Disorder 10
539 ELC003 Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus 10
540 NRP061 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia 10
541 BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 10
542 LRY052 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 10
543 PCS004 Pacs1 Neurodevelopmental Disorder 10
544 MYC032 Myoclonic Encephalopathy of Infants 10
545 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
546 CRB178 Cerebellar Ataxia and Neurosensory Deafness 10
547 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
548 MDD017 Middle Ear Neuroendocrine Tumor 9
549 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 9
550 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 9
551 OPH019 Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 9
552 GNT083 Genetic Neurodegenerative Disease 9
553 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 8
554 SCN086 Scn9a Neuropathic Pain Syndromes 8
555 P CRN291 Cranial Nerves, Recurrent Paresis of 8
556 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 8
557 CRT047 Creatine Kinase, Brain Type, Ectopic Expression of 8
558 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 8
559 GRS015 Gars1-Associated Axonal Neuropathy 8
560 IND013 Indolylacroyl Glycinuria with Mental Retardation 8
561 CHD008 Chd4 Neurodevelopmental Disorder 8
562 LNT009 Lentiginosis, Centrofacial Neurodysraphic 8
563 c PPP002 Ppp2r5d-Related Neurodevelopmental Disorder 8
564 NRP069 Neuro-Ophthalmological Disease 8
565 PSD115 Pseudouridinuria and Mental Defect 8
566 HYP778 Hypertrophic Neuropathy and Cataract 8
567 ALK018 Alk-Related Neuroblastic Tumor Susceptibility 7
568 MDF003 Modifier, X-Linked, for Neurofunctional Defects 7
569 CNT066 Central Cervical Cord Syndrome 7
570 PRG048 Progressive Locomotor Ataxia 7
571 GNT121 Genetic Cerebral Malformation 7
572 c CRN290 Cranial Nerves, Congenital Paresis of 7
573 NRV014 Neurovisceral Storage Disease with Curvilinear Bodies 7
574 RRG042 Rare Genetic Neurological Disorder 7
575 BYL002 Boylan Dew Greco Syndrome 6
576 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
577 NRP056 Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive 6
578 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 6
579 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 6
580 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 5
581 c FML158 Familial Hemangioma 5
582 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 5
583 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
584 DRC003 Drachtman Weinblatt Sitarz Syndrome 5
585 LNR018 Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies 5
586 GLT033 Glutamic Acid Decarboxylase, Brain, Membrane Form 4
587 GNT187 Genetic Syndrome with a Central Nervous System Malformation As a Major Feature 4
588 SYN047 Syndromic Optic Nerve Hypoplasia 4
589 SYN094 Syndromic X-Linked Mental Retardation Hough Type 4
590 KZN001 Kuzniecky Andermann Syndrome 4
591 NRL012 Neurological Manifestations of Pompe Disease 4
592 GNT058 Genetic Neuro-Ophthalmological Disease 4
593 c ATM108 Autoimmune/inflammatory Optic Neuropathy 4
594 RRC030 Rare Oculomotor Nerve Disorder 4
595 GST109 Gastroenteric Neuroendocrine Neoplasm 3
596 CRN091 Craniosynostosis Alopecia Brain Defect 3
597 SYP007 Syphilitic Spinal Sclerosis 3
598 GNT081 Genetic Central Nervous System Malformation 3
599 NRM007 Neuroma Biliary Tract 3
600 GNT110 Genetic Neurodegenerative Disease with Dementia 3
601 NRM020 Neuromuscular Disease with Dilated Cardiomyopathy 3
602 DSR017 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement 3
603 DSR018 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement 3
604 ATS441 Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs 3
605 RRG039 Rare Genetic Autonomic Nervous System Disorder 3
606 RRG063 Rare Genetic Neuromuscular Disorder with Ocular Motility/alignment Anomaly 3
607 RRG067 Rare Genetic Ophthalmic Disorder with Cranial Nerve Involvement 3
608 NRN048 Neuroendocrine Tumor with Other Location 3
609 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
610 ATX012 Ataxias and Cerebellar or Spinocerebellar Degeneration 2
611 SCK039 Sucking/swallowing Disorder Associated with a Neuromuscular Disease 2
612 SCK044 Sucking/swallowing Disorder Associated with Neurologic Anomalies 2
613 GNT115 Genetic Neuroendocrine Tumor 2
614 GNT120 Genetic Non-Syndromic Central Nervous System Malformation 2
615 QLT010 Qualitative or Quantitative Protein Defects in Neuromuscular Diseases 2
616 LMN009 Laminopathy with Peripheral Neuropathy 2
617 GNT153 Genetic Neurovascular Malformation 2
618 IRF003 Irf2bpl- Related Regressive Neurodevelopmental Disorder-Dystonia-Seizures Syndrome 2
619 EPL007 Epilepsy Mental Deterioration Finnish Type 2
620 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 2
621 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 1
622 FCL024 Focal or Multifocal Malformations in Neuronal Migration 1
623 NRC007 Neuroectodermal Endocrine Syndrome 1
624 NRN007 Neuronal Interstitial Dysplasia 1
625 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 1
626 c AMY091 Amyotrophic Lateral Sclerosis 1 87
627 P MLT020 Multiple Sclerosis 79
628 MYL069 Myeloma, Multiple 76
629 PHN003 Phenylketonuria 76
630 c MCP050 Mucopolysaccharidosis, Type Ii 73
631 XRD010 Xeroderma Pigmentosum, Variant Type 72
632 c TBR026 Tuberous Sclerosis 2 71
633 BHC003 Behcet Syndrome 70
634 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70
635 WLS001 Wilson Disease 70
636 P GCH001 Gaucher's Disease 69
637 c MSM022 Mismatch Repair Cancer Syndrome 1 69
638 c MCP001 Mucopolysaccharidosis Iii 69
639 MLT157 Multiple System Atrophy 1 69
640 P KRB001 Krabbe Disease 69
641 P TYS001 Tay-Sachs Disease 69
642 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
643 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68
644 P SPR120 Supranuclear Palsy, Progressive, 1 68
645 LWC002 Lowe Oculocerebrorenal Syndrome 68
646 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68
647 P CCK001 Cockayne Syndrome 67
648 CRB037 Cerebral Palsy 66
649 HRL003 Hurler Syndrome 66
650 P KBK002 Kabuki Syndrome 1 66
651 P MLG056 Malignant Hyperthermia 65
652 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
653 P MCK013 Meckel Syndrome, Type 1 64
654 TTN003 Tetanus 64
655 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64
656 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 63
657 TNG002 Tangier Disease 63
658 c NMN013 Niemann-Pick Disease, Type a 63
659 LYM017 Lyme Disease 63
660 P CHL002 Childhood Absence Epilepsy 62
661 P MCH002 Machado-Joseph Disease 62
662 c MCP049 Mucopolysaccharidosis, Type Vii 62
663 c OPT053 Optic Atrophy 1 62
664 CRN239 Carnitine Deficiency, Systemic Primary 62
665 c PRX045 Peroxisome Biogenesis Disorder 1b 61
666 TRG002 Trigeminal Neuralgia 61
667 CHN055 Chanarin-Dorfman Syndrome 61
668 HRP004 Herpes Zoster 60
669 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 60
670 P PRP029 Porphyria 60
671 c GLY003 Glycogen Storage Disease Iii 60
672 CHR066 Chronic Fatigue Syndrome 59
673 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 59
674 CFF002 Coffin-Lowry Syndrome 59
675 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59
676 DNN001 Danon Disease 59
677 STT001 Status Epilepticus 58
678 HRL004 Hurler-Scheie Syndrome 58
679 c GLY007 Glycogen Storage Disease Iv 58
680 PRT058 Pure Autonomic Failure 58
681 c CNG415 Congenital Disorder of Glycosylation, Type Ia 58
682 MLN014 Melnick-Needles Syndrome 58
683 GYR004 Gyrate Atrophy of Choroid and Retina 58
684 STF001 Stiff-Person Syndrome 57
685 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 57
686 VCS001 Vici Syndrome 57
687 MXD005 Mixed Connective Tissue Disease 57
688 MTC207 Mitochondrial Complex Ii Deficiency, Nuclear Type 1 57
689 c PRX059 Peroxisome Biogenesis Disorder 1a 57
690 GLY010 Glycine Encephalopathy 57
691 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 56
692 P HDC001 Headache 56
693 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
694 P EXD001 Exudative Vitreoretinopathy 56
695 PLS011 Plasmacytoma 56
696 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56
697 P MYS005 Myositis 55
698 BRT005 Barth Syndrome 55
699 P TMT001 Timothy Syndrome 55
700 INT030 Intracranial Aneurysm 55
701 UNV001 Unverricht-Lundborg Syndrome 55
702 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54
703 FND002 Fundus Dystrophy 54
704 SPN041 Spinal Cord Disease 54
705 ALL001 Allan-Herndon-Dudley Syndrome 54
706 DBT010 Diabetic Neuropathy 54
707 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 53
708 HMP005 Hemiplegia 53
709 GNG004 Ganglioglioma 53
710 KRT006 Keratoconjunctivitis 53
711 MLT135 Multiple Sulfatase Deficiency 53
712 FCL014 Focal Epilepsy 53
713 NRT004 Neuritis 53
714 MLL018 Miller-Dieker Lissencephaly Syndrome 53
715 TRC023 Trichinosis 53
716 c GCH016 Gaucher Disease, Type Ii 53
717 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 52
718 JHN001 Johanson-Blizzard Syndrome 52
719 P FBR031 Febrile Seizures 52
720 NRL004 Neuroleptic Malignant Syndrome 52
721 PRP016 Paraplegia 52
722 GLL048 Glial Tumor 51
723 c ART119 Arthrogryposis, Distal, Type 5 51
724 P MGR003 Migraine with Aura 51
725 P THY054 Thyrotoxic Periodic Paralysis 51
726 MCR088 Microscopic Polyangiitis 51
727 P BNG030 Benign Ependymoma 51
728 CHR078 Chorioretinitis 50
729 EXP004 Exophthalmos 50
730 DBT004 Diabetic Polyneuropathy 50
731 c HRD173 Hereditary Late-Onset Parkinson Disease 50
732 c ACT078 Acute Porphyria 50
733 CYT005 Cytomegalovirus Retinitis 50
734 QDR001 Quadriplegia 49
735 RYS001 Reye Syndrome 49
736 FCL012 Facial Paralysis 49
737 P HLL001 Hallermann-Streiff Syndrome 49
738 P OPT048 Opitz-Gbbb Syndrome 49
739 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 48
740 TRP002 Tropical Spastic Paraparesis 48
741 BHR002 Bohring-Opitz Syndrome 48
742 P MGR001 Migraine Without Aura 48
743 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 48
744 DBW001 Dubowitz Syndrome 48
745 INT010 Intracranial Embolism 48
746 CRY014 Cryptococcal Meningitis 48
747 OPD006 Opioid Addiction 48
748 DFF016 Diffuse Astrocytoma 48
749 BLL004 Bullous Keratopathy 48
750 MNN009 Meningoencephalitis 47
751 c OPT050 Opitz Gbbb Syndrome, Type Ii 47
752 INT395 Intracranial Meningioma 47
753 WDM005 Wiedemann-Rautenstrauch Syndrome 47
754 SPN402 Spinal Muscular Atrophy, X-Linked 2 47
755 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 47
756 LNG015 Lingual-Facial-Buccal Dyskinesia 47
757 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 47
758 LBR025 Lobar Holoprosencephaly 47
759 P CRN028 Corneal Ulcer 47
760 P PLY020 Polyradiculoneuropathy 47
761 UND011 Undetermined Early-Onset Epileptic Encephalopathy 47
762 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 46
763 GNG008 Ganglioneuroblastoma 46
764 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 46
765 BCK003 Background Diabetic Retinopathy 46
766 ESN015 Eosinophilic Fasciitis 46
767 c GM2006 Gm2 Gangliosidosis 46
768 KRT008 Keratopathy 46
769 FNG004 Fungal Meningitis 46
770 c SPN312 Spinocerebellar Ataxia 14 46
771 c ZLL011 Zellweger Spectrum Disorder 45
772 EPT021 Epithelial Recurrent Erosion Dystrophy 45
773 RTN023 Retinitis 45
774 c RTN172 Retinitis Pigmentosa 1 45
775 c PRK052 Parkinson Disease 17 45
776 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 45
777 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 45
778 MNN020 Meningococcal Infection 44
779 OBS004 Obstructive Hydrocephalus 44
780 c ATM099 Autoimmune Uveitis 44
781 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
782 P GNT009 Giant Axonal Neuropathy 44
783 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 44
784 LCK001 Locked-in Syndrome 44
785 P WST004 West Nile Encephalitis 44
786 CSL001 Causalgia 44
787 c JBR016 Joubert Syndrome 10 44
788 CHR543 Chromosome 2q37 Deletion Syndrome 43
789 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
790 c ERL020 Early-Onset Schizophrenia 43
791 c JBR031 Joubert Syndrome 21 43
792 MYC069 Myoclonic-Astastic Epilepsy 43
793 CRB009 Cerebritis 43
794 P BRT047 Brittle Cornea Syndrome 43
795 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 43
796 c HYP597 Hyperprolinemia, Type Ii 43
797 c RTN143 Retinitis Pigmentosa 47 42
798 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
799 c SPN265 Spinocerebellar Ataxia 36 42
800 P CRN026 Corneal Edema 42
801 c RTN066 Retinitis Pigmentosa 4 42
802 c TRC100 Trichothiodystrophy 3, Photosensitive 42
803 RVL002 Ruvalcaba Syndrome 42
804 ELS006 Elsahy-Waters Syndrome 42
805 XRP001 Xerophthalmia 42
806 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 42
807 PHT008 Photosensitive Epilepsy 41
808 c ART104 Arthrogryposis, Distal, Type 5d 41
809 FCL022 Focal Dystonia 41
810 AMY003 Amyotrophic Neuralgia 41
811 LWG006 Low Grade Glioma 41
812 P CHR342 Chiari Malformation 41
813 c LBR009 Leber Congenital Amaurosis 14 41
814 P SPS008 Spastic Ataxia 41
815 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 41
816 CHL107 Childhood-Onset Nemaline Myopathy 41
817 c TYR011 Tyrosinemia, Type Iii 41
818 PLL008 Pallister-Killian Syndrome 41
819 PHY002 Physical Disorder 40
820 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40
821 P PRK101 Parkinsonism-Dystonia, Infantile, 1 40
822 LNS001 Lens Subluxation 40
823 SCR001 Secretory Meningioma 40
824 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 40
825 PLM020 Pleomorphic Xanthoastrocytoma 39
826 c DVL049 Developmental and Epileptic Encephalopathy 23 39
827 SPS004 Spastic Quadriplegia 39
828 SPN221 Spina Bifida Occulta 39
829 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 39
830 c RTN048 Retinitis Pigmentosa 19 39
831 PRM056 Primrose Syndrome 39
832 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
833 IDP031 Idiopathic Hypersomnia 39
834 FRY002 Fryns Syndrome 39
835 PLY158 Polyglucosan Body Neuropathy, Adult Form 39
836 c RTN056 Retinitis Pigmentosa 28 39
837 LGH012 Leigh Syndrome with Leukodystrophy 39
838 HYP008 Hypertensive Retinopathy 39
839 EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 39
840 CMB052 Combined Oxidative Phosphorylation Deficiency 20 39
841 c ALT008 Alternating Hemiplegia of Childhood 1 39
842 c ERL056 Early-Onset Parkinson's Disease 39
843 MYL057 Myelopathy, Htlv-1-Associated 39
844 c RTN090 Retinitis Pigmentosa 55 39
845 PRS025 Presbyopia 39
846 SCR011 Scrapie 39
847 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 38
848 c MCP051 Mucopolysaccharidosis, Type Ix 38
849 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 38
850 c MCL041 Macular Degeneration, Age-Related, 7 38
851 AP4001 Ap-4-Associated Hereditary Spastic Paraplegia 38
852 ACT064 Acute Necrotizing Encephalitis 38
853 TMP012 Temple Syndrome 38
854 CNJ007 Conjunctivochalasis 38
855 MYX001 Myxopapillary Ependymoma 38
856 SPP007 Suppression Amblyopia 38
857 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 38
858 c LBR011 Leber Congenital Amaurosis 16 38
859 MNN001 Meningeal Melanocytoma 38
860 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38
861 CRT055 Creatine Deficiency Syndromes 38
862 c PRM092 Primary Lateral Sclerosis, Adult, 1 38
863 c RTN176 Retinitis Pigmentosa 71 38
864 c CNR016 Cone-Rod Dystrophy 7 38
865 FBR064 Febrile Infection-Related Epilepsy Syndrome 38
866 ATX023 Ataxia, Sensory, 1, Autosomal Dominant 38
867 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 38
868 TRG019 Trigonocephaly with Short Stature and Developmental Delay 38
869 GLS004 Glossopharyngeal Neuralgia 37
870 HYP084 Hypopyon 37
871 c EXD012 Exudative Vitreoretinopathy 7 37
872 c RTN052 Retinitis Pigmentosa 23 37
873 c DYS067 Dystonia 6, Torsion 37
874 UNL002 Unilateral Retinoblastoma 37
875 ALG001 Algoneurodystrophy 37
876 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 37
877 c RTS002 Ritscher-Schinzel Syndrome 2 37
878 HRP025 Herpes Simplex Virus Keratitis 37
879 HYP026 Hypoglycemic Coma 37
880 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 37
881 SPT016 Septopreoptic Holoprosencephaly 37
882 KNZ001 Kanzaki Disease 37
883 INT053 Intracranial Vasospasm 37
884 c RTN177 Retinitis Pigmentosa 73 37
885 CHR079 Choroid Disease 37
886 RNG003 Ring Dermoid of Cornea 37
887 c BLP048 Blepharospasm, Benign Essential 36
888 GRN055 Granular Corneal Dystrophy 36
889 PST086 Posterior Cortical Atrophy 36
890 NWF001 Newfoundland Rod-Cone Dystrophy 36
891 P DCR004 Dacryocystitis 36
892 INT003 Intracranial Hypotension 36
893 ESN006 Eosinophilic Meningitis 36
894 SVR002 Severe Nonproliferative Diabetic Retinopathy 36
895 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 36
896 ARC023 Arcus Corneae 36
897 c EPL236 Epilepsy, Idiopathic Generalized 15 36
898 PRN022 Perineurioma 36
899 CMP006 Complex Partial Epilepsy 36
900 DBT081 Diabetic Encephalopathy 36
901 DCR002 Dacryocystocele 36
902 c DVL059 Developmental and Epileptic Encephalopathy 33 36
903 c JBR022 Joubert Syndrome 20 36
904 CRT009 Critical Illness Polyneuropathy 36
905 CHR043 Chronic Inflammatory Demyelinating Polyneuritis 36
906 CRN288 Corneal Dystrophy, Band-Shaped 36
907 SYR010 Syringomyelia, Noncommunicating Isolated 36
908 c ACR091 Aicardi-Goutieres Syndrome 4 35
909 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 35
910 CRB036 Cerebral Meningioma 35
911 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 35
912 P HYP700 Hypomyelinating Leukodystrophy 35
913 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 35
914 HMP030 Haemophilus Meningitis 35
915 RCR001 Recurrent Corneal Erosion 35
916 TYP026 Typical Congenital Nemaline Myopathy 35
917 c THY084 Thyrotoxic Periodic Paralysis 1 35
918 c RTN171 Retinitis Pigmentosa 59 35
919 MLN009 Melanotic Neurilemmoma 35
920 INC003 Inclusion Conjunctivitis 35
921 c DVL067 Developmental and Epileptic Encephalopathy 42 35
922 ADM001 Adamantinous Craniopharyngioma 35
923 PRF002 Perforated Corneal Ulcer 35
924 VRN001 Vernal Conjunctivitis 35
925 c KLF005 Kleefstra Syndrome 2 35
926 P MYC026 Myoclonus Epilepsy 35
927 BLT001 Bilateral Retinoblastoma 34
928 c JVN009 Juvenile Pilocytic Astrocytoma 34
929 TBL035 Tubulinopathy 34
930 CNT106 Centralopathic Epilepsy 34
931 GNT006 Giant Papillary Conjunctivitis 34
932 c JBR037 Joubert Syndrome 26 34
933 LRG003 Large Cell Medulloblastoma 34
934 PRG090 Progressive Relapsing Multiple Sclerosis 34
935 MCR183 Microcephaly-Capillary Malformation Syndrome 34
936 RTN006 Retinal Drusen 34
937 SYD002 Sydenham Chorea 34
938 c HYP519 Hyperekplexia 3 34
939 WTT002 Witteveen-Kolk Syndrome 34
940 ANS006 Anosognosia 34
941 CLS049 Classic Phenylketonuria 34
942 AMN007 Aminoacylase 1 Deficiency 33
943 CHL006 Childhood Oligodendroglioma 33
944 GLF001 Gliofibroma 33
945 P VCT008 Vacterl with Hydrocephalus 33
946 ATX039 Ataxia-Pancytopenia Syndrome 33
947 c RTN134 Retinitis Pigmentosa 40 33
948 CRB028 Cerebellar Medulloblastoma 33
949 CHR362 Chromosome 17q21.31 Duplication Syndrome 33
950 CRN022 Corneal Degeneration 33
951 CHR028 Chronic Wasting Disease 33
952 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 33
953 PPL019 Papillary Conjunctivitis 33
954 ACT022 Acute Retinal Necrosis Syndrome 33
955 LKC002 Leukocoria 33
956 CLS047 Classic Progressive Supranuclear Palsy Syndrome 33
957 PRX009 Paroxysmal Hemicrania 33
958 ALT003 Alternating Exotropia 33
959 MRN002 Mooren's Ulcer 33
960 P RDC010 Reducing Body Myopathy 33
961 c CNR017 Cone-Rod Dystrophy 9 33
962 OPH001 Ophthalmomyiasis 32
963 RHB002 Rhabdoid Meningioma 32
964 CRB026 Cerebellar Astrocytoma 32
965 HRP037 Herpes Zoster Oticus 32
966 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 32
967 IRR001 Irregular Astigmatism 32
968 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 32
969 c RTN186 Retinitis Pigmentosa 75 32
970 c MCL036 Macular Degeneration, Age-Related, 6 32
971 RBS002 Rubeosis Iridis 32
972 ADL053 Adult Astrocytic Tumour 32
973 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 32
974 P SCP010 Scapuloperoneal Myopathy 32
975 PPL050 Papillary Tumor of the Pineal Region 32
976 c EPL209 Epilepsy, Idiopathic Generalized 10 32
977 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 32
978 c EPL188 Epilepsy, Progressive Myoclonic, 10 32
979 PHR002 Pharyngoconjunctival Fever 32
980 c KBK003 Kabuki Syndrome 2 32
981 PNG001 Pinguecula 32
982 GMS001 Gemistocytic Astrocytoma 32
983 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 32
984 c RTN169 Retinitis Pigmentosa 70 32
985 PST103 Postpartum Psychosis 31
986 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31
987 ANT007 Anterior Horn Cell Disease 31
988 DYS001 Dyskinetic Cerebral Palsy 31
989 c INF019 Infectious Anterior Uveitis 31
990 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 31
991 VTR002 Vitreous Syneresis 31
992 CLR011 Clear Cell Ependymoma 31
993 PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 31
994 PRT006 Partial Motor Epilepsy 31
995 DGN002 Degenerative Myopia 31
996 ANS004 Anisometropia 31
997 c JVN038 Juvenile Myasthenia Gravis 31
998 CBB005 Cobblestone Lissencephaly 31
999 FRN003 Frontal Convexity Meningioma 31
1000 c RTN178 Retinitis Pigmentosa 72 31
1001 CRT069 Cortical Malformations, Occipital 31
1002 c RNG008 Ring Chromosome 13 31
1003 PSD006 Pseudopterygium 30
1004 c GLY017 Glycogen Storage Disease Ic 30
1005 c EPL155 Epilepsy, Progressive Myoclonic, 8 30
1006 c CNR026 Cone-Rod Dystrophy 18 30
1007 c EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 30
1008 RTN013 Retinal Hemangioblastoma 30
1009 CRB015 Cerebellar Angioblastoma 30
1010 c PRM015 Primary Cerebellar Degeneration 30
1011 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1012 c GLM043 Glioma Susceptibility 9 30
1013 c RTN065 Retinitis Pigmentosa 36 30
1014 c INF185 Infantile Epilepsy Syndrome 30
1015 P VTR008 Vitreoretinal Degeneration 30
1016 c GLM025 Glioma Susceptibility 2 30
1017 PPL013 Papillary Ependymoma 30
1018 MNC001 Monocular Esotropia 30
1019 c EPL200 Epilepsy, Childhood Absence 1 30
1020 c GLC100 Glaucoma 1, Open Angle, D 30
1021 SKR001 Skraban-Deardorff Syndrome 30
1022 PRX035 Paroxysmal Dyskinesia 30
1023 CNJ001 Conjugate Gaze Palsy 30
1024 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1025 c EPL165 Epilepsy, Idiopathic Generalized 14 30
1026 CRN009 Corneal Ectasia 30
1027 INT082 Intraocular Retinoblastoma 30
1028 CRB005 Cerebral Arteritis 29
1029 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1030 CHR055 Chordoid Meningioma 29
1031 RDG001 Red-Green Color Blindness 29
1032 P FML258 Familial Acute Necrotizing Encephalopathy 29
1033 LST003 Listeria Meningitis 29
1034 FLM001 Filamentary Keratitis 29
1035 PPL009 Papillary Craniopharyngioma 29
1036 CHR281 Chronic Hiccups 29
1037 c CTR119 Cataract 32, Multiple Types 29
1038 CLL001 Cellular Schwannoma 29
1039 NSY001 N Syndrome 29
1040 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 29
1041 c EPL205 Epilepsy, Idiopathic Generalized 13 29
1042 c MYP088 Myopathy, Tubular Aggregate, 2 29
1043 c ALZ031 Alzheimer Disease 17 29
1044 c EPL098 Epilepsy, Idiopathic Generalized 12 29
1045 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 29
1046 c EPL091 Epilepsy, Idiopathic Generalized 3 29
1047 RST024 Rosette-Forming Glioneuronal Tumor 29
1048 ANS018 Anismus 29
1049 TNY001 Tanycytic Ependymoma 29
1050 NDL008 Nodular Episcleritis 29
1051 XLN235 X-Linked Intellectual Disability with Marfanoid Habitus 29
1052 P NNT006 Neonatal Myasthenia Gravis 29
1053 WSS006 Weiss-Kruszka Syndrome 29
1054 PLX004 Plexopathy 29
1055 SPS134 Spasmodic Dystonia 28
1056 CRN128 Corneal Dystrophy, Endothelial, X-Linked 28
1057 SBD001 Subdural Empyema 28
1058 PLC004 Pilocytic Astrocytoma of Cerebellum 28
1059 NCL001 Nuclear Senile Cataract 28
1060 PNP001 Panophthalmitis 28
1061 c CHR088 Chronic Inflammation of Lacrimal Passage 28
1062 c PRX091 Peroxisome Biogenesis Disorder 8a 28
1063 CRB017 Cerebral Falx Meningioma 28
1064 c EPS037 Episodic Ataxia, Type 4 28
1065 ODN024 O'donnell-Luria-Rodan Syndrome 28
1066 c SPS021 Spastic Paraplegia 10 28
1067 c EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 28
1068 HMD003 Hemidystonia 28
1069 c EPL086 Epilepsy, Idiopathic Generalized 9 28
1070 CMB071 Combined Oxidative Phosphorylation Deficiency 27 28
1071 c THY083 Thyrotoxic Periodic Paralysis 2 28
1072 SPN340 Spontaneous Intracranial Hypotension 28
1073 CHR077 Chorioretinal Scar 28
1074 ANG050 Angiocentric Glioma 28
1075 SGM008 Segmental Dystonia 28
1076 FCL007 Facial Neuralgia 28
1077 c RCR002 Recurrent Hypersomnia 28
1078 c DVL094 Developmental and Epileptic Encephalopathy 70 28
1079 PST113 Posterior Fossa Ependymoma 28
1080 c CTR158 Cataract 37 27
1081 TRN011 Transient Refractive Change 27
1082 IMM002 Immature Cataract 27
1083 c RNG007 Ring Chromosome 12 27
1084 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 27
1085 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 27
1086 SLR002 Solar Retinopathy 27
1087 PHT002 Photokeratitis 27
1088 MCR001 Microcystic Meningioma 27
1089 PHL001 Phlyctenulosis 27
1090 c SCH080 Schizophrenia 3 27
1091 c EPS014 Episodic Ataxia, Type 3 27
1092 PSD004 Pseudomembranous Conjunctivitis 27
1093 MNN024 Meningitis and Encephalitis 27
1094 PRS120 Persistent Idiopathic Facial Pain 27
1095 PLL004 Pallister W Syndrome 27
1096 P OVR096 Overlap Myositis 27
1097 P JVN001 Juvenile Astrocytoma 27
1098 CMP017 Camptocormism 27
1099 CHL062 Childhood Pilocytic Astrocytoma 26
1100 PRR019 Perioral Myoclonia with Absences 26
1101 DPT001 Dipetalonemiasis 26
1102 LCR001 Lacrimal Duct Obstruction 26
1103 c CTR180 Cataract 22, Multiple Types 26
1104 PLY110 Polymicrogyria, Bilateral Temporooccipital 26
1105 ANG009 Angiomatous Meningioma 26
1106 HYP048 Hypotropia 26
1107 MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 26
1108 c MYP127 Myopia 2, Autosomal Dominant 26
1109 EPT025 Epithelial Basement Membrane Dystrophy 26
1110 STR086 Stromal Dystrophy 26
1111 c CFF012 Coffin-Siris Syndrome 7 26
1112 c LTH047 Lethal Congenital Contracture Syndrome 3 26
1113 EXP002 Exposure Keratitis 26
1114 TTR027 Tetrasomy 15q26 26
1115 c GLY093 Glycogen Storage Disease Ixa 26
1116 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 26
1117 P HYP821 Hypermanganesemia with Dystonia 26
1118 CHL058 Childhood Electroclinical Syndrome 26
1119 c ENC061 Encephalopathy, Acute, Infection-Induced 2 26
1120 PRS024 Parasagittal Meningioma 26
1121 MCR039 Macrophagic Myofasciitis 26
1122 INT310 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 26
1123 c DVL071 Developmental and Epileptic Encephalopathy 46 26
1124 c CTR116 Cataract 15, Multiple Types 25
1125 INT009 Intracranial Abscess 25
1126 TRN002 Transitional Meningioma 25
1127 MRG002 Marginal Corneal Ulcer 25
1128 DNC009 Diencephalic Astrocytoma 25
1129 NNT041 Neonatal Period Electroclinical Syndrome 25
1130 MYC001 Myoclonic Cerebellar Dyssynergia 25
1131 c RNG013 Ring Chromosome 18 25
1132 c CFF006 Coffin-Siris Syndrome 5 25
1133 MYP149 Myopathy, Mitochondrial, and Ataxia 25
1134 SHP003 Shapiro Syndrome 25
1135 EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 25
1136 CNJ002 Conjunctival Folliculosis 25
1137 MNN004 Meningothelial Meningioma 25
1138 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
1139 c MRG014 Meier-Gorlin Syndrome 6 25
1140 c CRN280 Cornea Plana 2, Autosomal Recessive 25
1141 CVR001 Cavernous Sinus Meningioma 25
1142 CRN004 Corneal Abscess 25
1143 EXT029 Extraocular Retinoblastoma 25
1144 SPC030 Specific Language Disorder 25
1145 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 25
1146 LNG113 Liang-Wang Syndrome 25
1147 VST003 Vestibular Nystagmus 25
1148 c ATS432 Autosomal Dominant Distal Myopathy 24
1149 STR002 Streptococcal Meningitis 24
1150 SND005 Sandifer Syndrome 24
1151 P PRD017 Periodic Paralyses 24
1152 c EPL084 Epilepsy, Idiopathic Generalized 11 24
1153 c BSL030 Basal Encephalocele 24
1154 ADL051 Adolescence-Adult Electroclinical Syndrome 24
1155 ARG003 Argyll Robertson Pupil 24
1156 c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 24
1157 KHN002 Khan-Khan-Katsanis Syndrome 24
1158 CGN001 Cogan-Reese Syndrome 24
1159 OCC008 Occipital Neuralgia 24
1160 CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 24
1161 BRD008 Borderline Glaucoma 24
1162 MYP165 Myopathy, Epilepsy, and Progressive Cerebral Atrophy 24
1163 PRM050 Primary Orthostatic Tremor 24
1164 LGP003 Logopenic Progressive Aphasia 24
1165 HRD019 Hereditary Choroidal Atrophy 24
1166 c CHR094 Chronic Polyneuropathy 24
1167 c MYP138 Myopia 3, Autosomal Dominant 24
1168 c CRB217 Cerebellar Ataxia Type 42 24
1169 ACC003 Accommodative Esotropia 24
1170 CRB023 Cerebellopontine Angle Meningioma 24
1171 CHR703 Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb 23
1172 ACT065 Acute Hemorrhagic Encephalitis 23
1173 DSS001 Disseminated Chorioretinitis 23
1174 BRC002 Brachial Plexus Neuritis 23
1175 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 23
1176 OCL070 Oculopalatocerebral Syndrome 23
1177 LTR007 Lateral Ventricle Meningioma 23
1178 c ACT229 Acute Necrotizing Encephalopathy Type 1 23
1179 OPH003 Ophthalmia Nodosa 23
1180 SDN002 Sudanophilic Cerebral Sclerosis 23
1181 EXP001 Expressive Language Disorder 23
1182 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
1183 c MLT094 Multiple Sclerosis 3 23
1184 CNG005 Congenital Aphakia 23
1185 CTR107 Cataract 13 with Adult I Phenotype 23
1186 STX005 Stxbp1 Encephalopathy 23
1187 INF033 Infancy Electroclinical Syndrome 23
1188 c SCH082 Schizophrenia 5 23
1189 INT058 Intraorbital Meningioma 23
1190 DSS006 Disuse Amblyopia 23
1191 PDT016 Pediatric Infratentorial Ependymoma 23
1192 CRB018 Cerebral Lipidosis 23
1193 ABN003 Abnormal Threshold of Rods 23
1194 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 23
1195 c RST020 Restless Legs Syndrome 6 23
1196 PRT005 Protoplasmic Astrocytoma 23
1197 BNG077 Benign Idiopathic Neonatal Seizures 23
1198 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
1199 HYP047 Hypertropia 22
1200 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 22
1201 PRN018 Paraneoplastic Polyneuropathy 22
1202 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
1203 MCD002 Mcdonough Syndrome 22
1204 c EPL092 Epilepsy, Idiopathic Generalized 2 22
1205 c MYC085 Myoclonic Epilepsy, Juvenile 3 22
1206 SPR168 Supratentorial Ependymoma 22
1207 PDT002 Pediatric Meningioma 22
1208 MXD001 Mixed Cerebral Palsy 22
1209 PHC001 Phacolytic Glaucoma 22
1210 CRT003 Cortical Senile Cataract 22
1211 XLN236 X-Linked Intellectual Disability-Epilepsy Syndrome 22
1212 MNN016 Mononeuritis of Upper Limb and Mononeuritis Multiplex 22
1213 NWN001 New-Onset Refractory Status Epilepticus 22
1214 c ENC037 Encephalopathy, Acute, Infection-Induced 6 22
1215 c ERL044 Early-Onset Posterior Polar Cataract 22
1216 SCL014 Scleral Staphyloma 22
1217 PRL018 Purulent Endophthalmitis 22
1218 c CHR060 Chronic Dacryocystitis 22
1219 CYC003 Cyclotropia 22
1220 BSL005 Basal Ganglia Cerebrovascular Disease 22
1221 RTN216 Retinitis Pigmentosa 82 with or Without Situs Inversus 21
1222 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 21
1223 RTC007 Reticular Perineurioma 21
1224 VTR001 Vitreoretinal Dystrophy 21
1225 PRT032 Partial Central Choroid Dystrophy 21
1226 SHK001 Shaken Baby Syndrome 21
1227 MLT132 Multifocal Dystonia 21
1228 LWR016 Lowry-Maclean Syndrome 21
1229 SPR019 Superficial Keratitis 21
1230 SCH031 Scholte Syndrome 21
1231 c ZKV002 Zika Virus Congenital Syndrome 21
1232 c KMT002 Kmt2b-Related Dystonia 21
1233 EXT009 Extratemporal Epilepsy 21
1234 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 21
1235 CRN309 Cranial Neuralgia 21
1236 c CTR106 Cataract 20, Multiple Types 21
1237 c ATS369 Autism 8 21
1238 c EPL093 Epilepsy, Idiopathic Generalized 7 21
1239 SCH025 Schisis Association 21
1240 c EPL137 Epilepsy, Childhood Absence 6 21
1241 P MNK007 Menke-Hennekam Syndrome 21
1242 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21
1243 ART154 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 21
1244 c SPN403 Spinocerebellar Ataxia, X-Linked 2 21
1245 CHR051 Chorea Gravidarum 21
1246 CRN225 Cranio-Facial Dystonia 21
1247 PRN068 Paraneoplastic Limbic Encephalitis 21
1248 c SCH086 Schizophrenia 11 21
1249 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 21
1250 c ACT037 Acute Dacryocystitis 21
1251 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 21
1252 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 21
1253 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 21
1254 c ACQ002 Acquired Night Blindness 20
1255 HMP027 Hemiparkinsonism-Hemiatrophy Syndrome 20
1256 CRN076 Crane-Heise Syndrome 20
1257 BLL005 Bullous Retinoschisis 20
1258 P DNC006 Diencephalic-Mesencephalic Junction Dysplasia 20
1259 CRN007 Corneal Staphyloma 20
1260 HYP188 Hypnic Headache 20
1261 c ENC063 Encephalopathy, Acute, Infection-Induced 7 20
1262 c RTN214 Retinitis Pigmentosa 81 20
1263 c RTN218 Retinitis Pigmentosa 84 20
1264 PNL003 Pineal Region Meningioma 20
1265 CNJ010 Conjunctival Degeneration 20
1266 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 20
1267 c CTR159 Cataract 35 20
1268 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1269 IDP006 Idiopathic Corneal Edema 20
1270 MNN006 Meninges Hemangiopericytoma 20
1271 KYB001 Kaya-Barakat-Masson Syndrome 20
1272 IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 20
1273 FCL013 Focal Chorioretinitis 20
1274 FRL002 Froelich Syndrome 20
1275 c CRB222 Cerebellar Ataxia Type 9 20
1276 c PLY008 Polyneuropathy Due to Drug 20
1277 c RNG021 Ring Chromosome 5 20
1278 c LPR023 Leprosy 1 20
1279 c RNG012 Ring Chromosome 17 20
1280 13Q001 13q12.3 Microdeletion Syndrome 20
1281 XLN191 X-Linked Hereditary Ataxia 20
1282 SPN092 Spinal Shock 20
1283 9Q3002 9q33.3q34.11 Microdeletion Syndrome 19
1284 DPK001 Deep Keratitis 19
1285 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
1286 UNL006 Unilateral Focal Polymicrogyria 19
1287 P CNG515 Congenital Zika Syndrome 19
1288 CHR053 Chronic Follicular Conjunctivitis 19
1289 XQ2003 Xq25 Duplication Syndrome 19
1290 BSL043 Basal Ganglia Calcification, Idiopathic, Childhood-Onset 19
1291 c CV3001 Cav3-Related Distal Myopathy 19
1292 c RNG019 Ring Chromosome 3 19
1293 c PRG145 Progressive Myoclonus Epilepsy 6 19
1294 c DYS058 Dystonia 15, Myoclonic 19
1295 c SPS191 Spastic Ataxia 7, Autosomal Dominant 19
1296 CNJ011 Conjunctival Deposit 19
1297 MDD001 Middle Cranial Fossa Meningioma 19
1298 c CNG433 Congenital Cornea Plana 19
1299 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
1300 RGL001 Regular Astigmatism 19
1301 PRM157 Primary Progressive Freezing Gait 19
1302 ABN001 Abnormal Retinal Correspondence 19
1303 c ANR046 Aniridia 3 19
1304 ISL154 Isolated Exencephaly 19
1305 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 19
1306 c MCR382 Microcephaly 26, Primary, Autosomal Dominant 19
1307 c ENC062 Encephalopathy, Acute, Infection-Induced 5 19
1308 c EPL090 Epilepsy, Idiopathic Generalized 5 18
1309 c SPS022 Spastic Paraplegia 12 18
1310 HYP659 Hypomyelinating Leukoencephalopathy 18
1311 RSD002 Residual Stage of Open Angle Glaucoma 18
1312 LMB057 Lumbosacral Spina Bifida Aperta 18
1313 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 18
1314 EPT024 Epithelial-Stromal Tgfbi Dystrophy 18
1315 17Q012 17q24.2 Microdeletion Syndrome 18
1316 MCL029 Macular Degeneration, X-Linked Atrophic 18
1317 ANP028 Anaplastic/large Cell Medulloblastoma 18
1318 c MYP144 Myopia 12, Autosomal Dominant 18
1319 c MLT095 Multiple Sclerosis 4 18
1320 c GLC051 Glaucoma 1, Open Angle, M 18
1321 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 18
1322 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
1323 UPP008 Upper Thoracic Spina Bifida Aperta 17
1324 THR085 Thoracolumbosacral Spina Bifida Aperta 17
1325 INT008 Intermittent Squint 17
1326 TRG017 Trigeminal Trophic Syndrome 17
1327 7P2001 7p22.1 Microduplication Syndrome 17
1328 CMP066 Complement Component 8 Deficiency 17
1329 EPT023 Epithelial and Subepithelial Dystrophy 17
1330 c PRK022 Parkinson Disease 12 17
1331 21Q001 21q22.11q22.12 Microdeletion Syndrome 17
1332 c ATS461 Autosomal Dominant Cerebellar Ataxia Type I 17
1333 SPN113 Spinocerebellar Ataxia with Dysmorphism 17
1334 ZBR001 Zebra Body Myopathy 17
1335 c SPS034 Spastic Paraplegia 26 17
1336 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 17
1337 BNG078 Benign Paroxysmal Torticollis of Infancy 17
1338 c MGR042 Migraine with or Without Aura 13 17
1339 JGL001 Jugular Foramen Meningioma 17
1340 IGG013 Igg4-Related Pachymeningitis 17
1341 c ATS170 Autism 19 17
1342 c MYP133 Myopia 18, Autosomal Recessive 17
1343 20P002 20p13 Microdeletion Syndrome 17
1344 RLN004 Rolandic Epilepsy-Speech Dyspraxia Syndrome 17
1345 LTH036 Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 17
1346 c INF047 Infantile Free Sialic Acid Storage Disease 17
1347 c MTC014 Mitochondrial Dna Deletion Syndromes 16
1348 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 16
1349 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 16
1350 c RTN208 Retinopathy, Pericentral Pigmentary, Autosomal Recessive 16
1351 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 16
1352 c CNG563 Congenital Myopathy with Cores 16
1353 3P2001 3p25.3 Microdeletion Syndrome 16
1354 c EPL208 Epilepsy, Idiopathic Generalized 8 16
1355 CTR171 Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome 16
1356 c CHR688 Chronic Acquired Demyelinating Polyneuropathy 16
1357 c EPL247 Epilepsy, Idiopathic Generalized 16 16
1358 RLF001 Rela Fusion-Positive Ependymoma 16
1359 PCS003 Pacs1 Syndrome 16
1360 c MYP069 Myopia 14 16
1361 MYC030 Myoclonic Epilepsy Myopathy Sensory Ataxia 16
1362 ALT004 Alternating Esotropia 16
1363 c MXD051 Mixed Cryoglobulinemia Type Ii 16
1364 ITR003 Iatrogenic Creutzfeldt-Jakob Disease 16
1365 EXT050 Extraneural Perineurioma 16
1366 c MGR023 Migraine Without Aura 4 16
1367 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 16
1368 MCR300 Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome 16
1369 VTR004 Vitreous Abscess 16
1370 CRB032 Cerebral Convexity Meningioma 16
1371 c MCH014 Machado-Joseph Disease Type 2 15
1372 c CHR035 Chronic Dacryoadenitis 15
1373 c MYP143 Myopia 11, Autosomal Dominant 15
1374 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 15
1375 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
1376 TRG013 Trigeminal Autonomic Cephalalgia 15
1377 c ATS373 Autism 11 15
1378 ABN004 Abnormal Pupillary Function 15
1379 ANP032 Anaplastic Pleomorphic Xanthoastrocytoma 15
1380 c SCN003 Secondary Corneal Edema 15
1381 PRX084 Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia 15
1382 EXP003 Exophthalmic Ophthalmoplegia 15
1383 c SPS032 Spastic Paraplegia 24 15
1384 c MRR012 Mirror Movements 3 15
1385 ENC045 Encephalopathy, Recurrent, of Childhood 15
1386 c NRC012 Narcolepsy 4 15
1387 c MGR038 Migraine with or Without Aura 10 15
1388 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 15
1389 CNS012 Cono-Spondylar Dysplasia 15
1390 c MCR282 Microcephaly and Chorioretinopathy 1 15
1391 FNG010 Fingerprint Body Myopathy 15
1392 RDT014 Radiation Myelitis 14
1393 c EPL186 Epilepsy, Juvenile Myoclonic 9 14
1394 MYC004 Mycotic Corneal Ulcer 14
1395 SCR022 Sacral Meningocele Conotruncal Heart Defects 14
1396 SPS093 Spastic Diplegia Cerebral Palsy 14
1397 c LTN017 Late-Infantile/juvenile Krabbe Disease 14
1398 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 14
1399 c PNT056 Pontocerebellar Hypoplasia, Type 15 14
1400 PLY127 Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome 14
1401 PHK006 Phakomatosis Pigmentokeratotica 14
1402 CMB094 Combined Dystonia 14
1403 VNB001 Van Benthem-Driessen-Hanveld Syndrome 14
1404 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 14
1405 DRL001 Dural Sinus Malformation 14
1406 c EPL089 Epilepsy, Idiopathic Generalized 4 14
1407 CNG472 Congenital Insensitivity to Pain with Severe Intellectual Disability 14
1408 CHR152 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 14
1409 c SPS029 Spastic Paraplegia 19 14
1410 PHR010 Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome 14
1411 P RTN200 Retinopathy, Pericentral Pigmentary, Dominant 14
1412 SCL041 Sclerosing Perineurioma 14
1413 CHR170 Choroid Plexus Cyst 14
1414 RCS010 Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome 14
1415 SPS047 Spastic Paraplegia with Precocious Puberty 14
1416 16P011 16p12.1p12.3 Triplication Syndrome 14
1417 SPN015 Spinal Polio 14
1418 c SPR166 Sporadic Fatal Insomnia 14
1419 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 14
1420 c DVL119 Developmental and Epileptic Encephalopathy 6b 13
1421 c PST110 Posterior Corneal Dystrophy 13
1422 EPL095 Epilepsy with Myoclonic Absences 13
1423 KNJ001 Kunjin Encephalitis 13
1424 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 13
1425 c SPS035 Spastic Paraplegia 29 13
1426 c KCN020 Kcnt1-Related Epilepsy 13
1427 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 13
1428 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 13
1429 ATY052 Atypical Timothy Syndrome 13
1430 FMR019 Fmr1 Disorders 13
1431 RTN102 Retinitis Pigmentosa, Y-Linked 13
1432 c ANT021 Anterior Foramen Magnum Meningioma 13
1433 c PRG144 Progressive Myoclonus Epilepsy 1b 13
1434 11P002 11p15.4 Microduplication Syndrome 13
1435 P HRD194 Hereditary Geniospasm 13
1436 SPS045 Spastic Paraplegia Facial Cutaneous Lesions 13
1437 c DPD002 Depdc5-Related Epilepsy 13
1438 c SPS024 Spastic Paraplegia 14 12
1439 TRM021 Tremor, Nystagmus, and Duodenal Ulcer 12
1440 c CLD017 Cold-Induced Sweating Syndrome 3 12
1441 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 12
1442 c RST015 Restless Legs Syndrome 4 12
1443 c RRH030 Rare Headache 12
1444 TMR022 Tumor of Meninges 12
1445 MNN015 Mononeuritis of Lower Limb 12
1446 c SPR097 Sporadic Hyperekplexia 12
1447 LMB001 Lumbosacral Plexus Lesion 12
1448 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 12
1449 SLC037 Slc35a2-Congenital Disorder of Glycosylation 12
1450 c CNG253 Congenital Communicating Hydrocephalus 12
1451 P TRS005 Torsion Dystonia with Onset in Infancy 12
1452 PST111 Posterior Fossa Malformation 12
1453 ANR041 Aniridia-Intellectual Disability Syndrome 12
1454 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 12
1455 ATT023 Attenuated Chediak-Higashi Syndrome 12
1456 CHR706 Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 12
1457 c SPS161 Spastic Paraplegia 32 12
1458 c RST021 Restless Legs Syndrome 5 12
1459 NNP018 Non-Paraneoplastic Limbic Encephalitis 12
1460 PTT005 Pituitary Stalk Meningioma 12
1461 c ANR023 Aneurysm, Intracranial Berry, 7 12
1462 ATM088 Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea 12
1463 INT228 Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome 12
1464 RBL002 Rubella Panencephalitis 12
1465 SYP002 Syphilitic Encephalitis 11
1466 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 11
1467 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 11
1468 P MDS020 Mediastinal Neurilemmoma 11
1469 CNG459 Congenital Myopathy with Myasthenic-Like Onset 11
1470 P ISL045 Isolated Focal Cortical Dysplasia Type I 11
1471 TTN002 Tetanic Cataract 11
1472 CRN194 Cranial Meningocele 11
1473 TDD001 Todd's Paralysis 11
1474 TPT004 Tapetoretinal Degeneration with Ataxia 11
1475 c MGR025 Migraine with Aura 7 11
1476 XLN101 X-Linked Complex Spastic Paraplegia 11
1477 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 11
1478 IDP040 Idiopathic Eosinophilic Myositis 11
1479 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 11
1480 MLL015 Mills Syndrome 11
1481 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 11
1482 c NYS019 Nystagmus, Congenital, Autosomal Recessive 10
1483 c CHR689 Chronic Polyradiculoneuropathy 10
1484 c CHR061 Chronic Canaliculitis 10
1485 INT396 Internal Carotid Absence 10
1486 PRP108 Paraparetic Variant of Guillain-Barre Syndrome 10
1487 CNG516 Congenital Cervical Spinal Stenosis 10
1488 HYP062 Hypopyon Ulcer 10
1489 CRN002 Corneal Argyrosis 10
1490 P ACT026 Acute Canaliculitis 10
1491 ADL033 Adult Papillary Meningioma 10
1492 c MGR027 Migraine with Aura 9 10
1493 PRG076 Progressive Cavitating Leukoencephalopathy 10
1494 FRR002 Ferro-Cerebro-Cutaneous Syndrome 10
1495 XLN210 X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome 10
1496 HST002 Histoplasmosis Retinitis 10
1497 c ATS403 Autosomal Dominant Intellectual Disability 40 10
1498 HTR024 Htra1-Related Cerebral Small Vessel Disease 9
1499 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 9
1500 SMP006 Simple Cryoglobulinemia 9
1501 c PST025 Posterior Dislocation of Lens 9
1502 CTH001 Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy 9
1503 CYN006 Cyanide-Induced Parkinsonism-Dystonia 9
1504 EQT001 Equatorial Staphyloma 9
1505 P ANT012 Anterior Dislocation of Lens 9
1506 STP001 Staphyloma Posticum 9
1507 CRY020 Cryptogenic Late-Onset Epileptic Spasms 9
1508 AXN006 Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy 9
1509 c ATS437 Autosomal Dominant Spastic Ataxia 9
1510 c HLL012 Hallermann-Streiff-Like Syndrome 9
1511 P RCR003 Recurrent Peripheral Facial Palsy 9
1512 BNG092 Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep 9
1513 GLB012 Glioblastoma Proneural Subtype 8
1514 CPN001 C-P Angle Neurinoma 8
1515 NDL004 Nodular Degeneration of Cornea 8
1516 BNG090 Benign Nocturnal Alternating Hemiplegia of Childhood 8
1517 RDT016 Radiation-Induced Plexopathy 8
1518 c ISL038 Isolated Focal Cortical Dysplasia Type Ib 8
1519 GNC007 Gonococcal Keratitis 8
1520 SYM001 Sympathetic Neurilemmoma 8
1521 PHL004 Phlegmonous Dacryocystitis 8
1522 INC032 Inclusion Myopathy 8
1523 SMP001 Simple Partial Epilepsy 8
1524 c NNS090 Non-Syndromic X-Linked Intellectual Disability 82 8
1525 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
1526 P EPP001 Epiphora Due to Insufficient Drainage 8
1527 BNG011 Benign Shuddering Attacks 7
1528 ACQ003 Acquired Tear Duct Stenosis 7
1529 SNG013 Single-Organ Polyarteritis Nodosa 7
1530 ANG003 Angelucci's Syndrome 7
1531 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 7
1532 ACT005 Acute Hydrops Keratoconus 7
1533 PRG012 Progressive Peripheral Pterygium 7
1534 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 7
1535 RGN006 Regional Variant of Guillain-Barre Syndrome 7
1536 c PRM322 Primary Myoclonus 7
1537 MDS004 Mediastinum Leiomyoma 7
1538 c PST023 Posterior Foramen Magnum Meningioma 7
1539 UPP001 Upper Clivus Meningioma 7
1540 NND013 Non-Dystrophic Myopathy 7
1541 MDL030 Medulloblastoma Wnt Activated 6
1542 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
1543 c ATS153 Autosomal Recessive Pure Spastic Paraplegia 6
1544 c NNS091 Non-Syndromic X-Linked Intellectual Disability 88 6
1545 PDT010 Pediatric Intraocular Retinoblastoma 6
1546 GSS001 Gasserian Ganglion Meningioma 6
1547 PDT013 Pediatric Extraocular Retinoblastoma 6
1548 CPH001 Cephalic Disorders 6
1549 BNG083 Benign Focal Seizures of Adolescence 6
1550 EXT049 Extramedullary Soft Tissue Plasmacytoma 6
1551 c SPS172 Spastic Ataxia 7 6
1552 RNG002 Ring Corneal Ulcer 6
1553 CNJ008 Conjunctival Concretion 6
1554 c PST012 Posterior Corneal Pigmentation 6
1555 LCL001 Localized Anterior Staphyloma 6
1556 EPL031 Epileptic Hemiplegia 6
1557 c MCR283 Microcephaly and Chorioretinopathy 2 6
1558 MDL031 Medulloblastoma Shh Activated 6
1559 MNN003 Mononeuritis of Upper Limb 6
1560 DPL002 Diplegia of Upper Limb 6
1561 c NNS075 Non-Syndromic X-Linked Intellectual Disability 20 6
1562 c NNS079 Non-Syndromic X-Linked Intellectual Disability 84 6
1563 CHL154 Childhood-Onset Epilepsy Syndrome 6
1564 MNC005 Monocular Exotropia 5
1565 MDS016 Mediastinal Melanocytic Neurilemmoma 5
1566 PDT017 Pediatric Infratentorial Ependymoblastoma 5
1567 c ATS179 Autosomal Recessive Cerebral Atrophy 5
1568 GNT165 Genetic Cerebral Small Vessel Disease 5
1569 MLF009 Malformation of the Cerebellar Vermis 5
1570 MCL004 Macular Keratitis 5
1571 P ANT008 Anterior Corneal Pigmentation 5
1572 EXT011 Extrapyramidal and Movement Disease 5
1573 GNC004 Gonococcal Iridocyclitis 5
1574 PHL002 Philophthalmiasis 5
1575 MDL034 Medulloblastoma Non-Wnt/non-Shh 5
1576 IDP007 Idiopathic Progressive Polyneuropathy 5
1577 FLT003 Flat Retinoschisis 5
1578 CLS018 Classic Paraneoplastic Limbic Encephalitis 5
1579 HRD119 Hereditary Inclusion Body Myopathy Type 4 5
1580 MYC061 Myoclonic Epilepsy in Non-Progressive Encephalopathies 5
1581 c NNS080 Non-Syndromic X-Linked Intellectual Disability 89 5
1582 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 5
1583 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 5
1584 SCH013 Schwannoma of Ureter 5
1585 ANT015 Anatomical Narrow Angle Borderline Glaucoma 5
1586 STR016 Steroid-Induced Glaucoma - Borderline 5
1587 EPD007 Epidural Spinal Canal Angiolipoma 5
1588 PPL011 Papillary Meningioma of the Cerebellum 5
1589 SCH006 Schwannoma of Jugular Foramen 5
1590 SPN023 Spinal Multifocal Clear Cell Meningioma 5
1591 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 5
1592 2P1003 2p13.2 Microdeletion Syndrome 5
1593 ATS449 Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome 5
1594 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 5
1595 NLX008 Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency 5
1596 ISL079 Isolated Encephalocele 5
1597 LCR003 Lacrimal Passage Granuloma 4
1598 STB001 Stable Condition Keratoconus 4
1599 RSD001 Residual Stage Angle-Closure Glaucoma 4
1600 PRN013 Perineural Angioma 4
1601 ISL106 Isolated Congenital Microcephaly 4
1602 MDL033 Medulloblastoma Shh Activated and Tp53 Wild-Type 4
1603 CNT008 Contact Lens Corneal Edema 4
1604 P PRM007 Primary Lacrimal Atrophy 4
1605 PRT004 Partial Sensory Epilepsy 4
1606 c CTR008 Cataract Congenital Autosomal Dominant 4
1607 CNG234 Congenital Myopathy, Paradas Type 4
1608 FNC064 Functional Variant of Guillain-Barre Syndrome 4
1609 XLN238 X-Linked Congenital Disorder of Glycosylation with Intellectual Disability As a Major Feature 4
1610 PRD032 Periodic Paralysis with Transient Compartment-Like Syndrome 4
1611 MDL029 Medullar Disease 4
1612 c RDC017 Reducing Body Myopathy 1a 4
1613 CRP024 Corpus Callosum Oligodendroglioma 4
1614 EPD008 Epidural Spinal Canal Meningioma 4
1615 CDQ002 Cauda Equina Intradural Extramedullary Astrocytoma 4
1616 c ISL052 Isolated Total Cerebellar Vermis Agenesis 4
1617 c PRR041 Pure or Complex Autosomal Dominant Spastic Paraplegia 4
1618 c SYS074 Systemic Diseases with Anterior Uveitis 4
1619 P NNT056 Neonatal Epilepsy Syndrome 4
1620 OTH025 Other Syndrome with Lissencephaly As a Major Feature 4
1621 c DDX001 Ddx3x-Related Intellectual Disability 4
1622 c GLC029 Glaucoma Type 1c 4
1623 BWM001 Bowman's Membrane Folds or Rupture 4
1624 RNG001 Ring Staphyloma 4
1625 STN003 Stenosis of Lacrimal Passage 4
1626 PRP014 Peripheral Degeneration of Cornea 4
1627 SMP002 Simple Chronic Conjunctivitis 4
1628 GNC008 Gonococcal Endophthalmia 4
1629 RSC002 Rosacea Conjunctivitis 4
1630 c FRG005 Fragile X Syndrome Type 2 4
1631 c SYS075 Systemic Diseases with Panuveitis 4
1632 c INF176 Infectious Disease with Epilepsy 4
1633 c INF177 Inflammatory and Autoimmune Disease with Epilepsy 4
1634 MDL032 Medulloblastoma Shh Activated and Tp53 Mutant 4
1635 P MDL035 Medulloblastoma Non-Wnt/non-Shh Group 3 4
1636 OCL054 Ocular Motor Apraxia, Cogan Type 4
1637 PHT005 Phthisical Cornea 4
1638 PRP012 Peripheral Focal Chorioretinitis 4
1639 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
1640 TCT001 Tactile Epilepsy 4
1641 PRT016 Partial Circumpapillary Choroid Dystrophy 4
1642 CNT022 Central Gyrate Choroidal Dystrophy 4
1643 TTL003 Total Circumpapillary Dystrophy of Choroid 4
1644 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1645 c ARX003 Arx-Related Epileptic Encephalopathy 4
1646 OLG023 Oligoastrocytic Tumor 4
1647 PNL022 Pineal Parenchymal Tumor of Intermediate Differenciation 4
1648 c ACT242 Acute and Subacute Inflammatory Demyelinating Polyneuropathy 4
1649 PRR043 Pure or Complex X-Linked Spastic Paraplegia 4
1650 CNG568 Congenital Disorder of Glycosylation with Epilepsy As a Major Feature 4
1651 NNX001 Non-X-Linked Congenital Disorder of Glycosylation with Intellectual Disability As a Major Feature 4
1652 CLD015 Cold-Induced Sweating Syndrome-Hyperthermia Spectrum 4
1653 PRM328 Primary Orthostatic Disorder 4
1654 BNG080 Benign Childhood Occipital Epilepsy, Gastaut Type 4
1655 ALP080 Alpha-Crystallinopathy 4
1656 PLM197 Pleomorphic Xanthoastrocytoma Braf Mutant 3
1657 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 3
1658 CHR044 Chronic Toxic Polyneuropathy 3
1659 STR013 Stroma-Dominant and Stroma-Poor Composite Ganglioneuroblastoma 3
1660 SCH005 Schwannian Stroma-Rich and Stroma-Poor Composite Ganglioneuroblastoma 3
1661 RMS003 Ramsay Hunt Syndrome I 3
1662 SYN102 Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature 3
1663 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 3
1664 EVR001 Eversion of Lacrimal Punctum 3
1665 STN002 Stenosis of Lacrimal Punctum 3
1666 c EPP002 Epiphora Due to Excess Lacrimation 3
1667 c SCN002 Secondary Lacrimal Atrophy 3
1668 STN001 Stenosis of Lacrimal Sac 3
1669 DFF008 Diffuse Secondary Choroid Atrophy 3
1670 SNL006 Senile Atrophy of Choroid 3
1671 ANG008 Angioid Streaks of Choroid 3
1672 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 3
1673 EPL256 Epilepsy and/or Ataxia with Myoclonus As a Major Feature 3
1674 PRS141 Persistent Combined Dystonia 3
1675 CL4011 Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Hemorrhagic Tendancy 3
1676 CL4012 Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Ischemic Tendancy 3
1677 ADL098 Adolescent-Onset Epilepsy Syndrome 3
1678 ISL159 Isolated Melanotic Schwannoma 3
1679 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 3
1680 ENC071 Encephaloclastic Disorder 3
1681 CHR685 Chromosomal Anomaly with Epilepsy As a Major Feature 2
1682 CRB206 Cerebral Malformation with Epilepsy 2
1683 ACQ060 Acquired Peripheral Movement Disorder 2
1684 MTL006 Metal Transport or Utilization Disorder with Epilepsy 2
1685 NNP020 Non Progressive Epilepsy and/or Ataxia with Myoclonus As a Major Feature 2
1686 PST108 Postinfectious Autoimmune Disease with Chorea 2
1687 SPH020 Sphingolipidosis with Epilepsy 2
1688 ATS457 Autosomal Recessive Syndromic Cerebellar Ataxia 2
1689 GRN066 Grin2b-Related Developmental Delay, Intellectual Disability and Autism Spectrum Disorder 2
1690 ERB001 Erb-Duchenne and Dejerine-Klumpke Palsies 1
1691 EWN003 Ewing Sarcoma 69
1692 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 62
1693 c FVL008 Foveal Hypoplasia 2 27
1694 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 40
1695 c DFN352 Deafness, Autosomal Recessive 8 37
1696 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 24
1697 NRG002 Neurogenic Bladder 54
1698 c DFN136 Deafness, Autosomal Dominant 9 46
1699 c DFN133 Deafness, Autosomal Recessive 9 45
1700 c DFN200 Deafness, Autosomal Dominant 17 43
1701 c DFN203 Deafness, Autosomal Recessive 30 41
1702 c DFN117 Deafness, Autosomal Dominant 15 37
1703 c DFN182 Deafness, Autosomal Recessive 71 36
1704 c NNS007 Nonsyndromic Deafness 36
1705 c ATS006 Autosomal Recessive Nonsyndromic Deafness 36
1706 c DFN111 Deafness, Autosomal Recessive 35 35
1707 c DFN280 Deafness, Autosomal Recessive 35
1708 c DFN155 Deafness, Autosomal Dominant 41 34
1709 c DFN259 Deafness, Autosomal Recessive 86 34
1710 c DFN360 Deafness, Autosomal Dominant 69 34
1711 c DFN260 Deafness, Autosomal Recessive 89 32
1712 c DFN119 Deafness, Autosomal Dominant 50 32
1713 c DFN248 Deafness, Autosomal Recessive 18b 31
1714 c DFN192 Deafness, Autosomal Dominant 23 31
1715 c DFN254 Deafness, Autosomal Recessive 84b 30
1716 c DFN246 Deafness, Autosomal Dominant 51 30
1717 c DFN099 Deafness, Autosomal Dominant 2b 30
1718 c DFN179 Deafness, Autosomal Recessive 62 29
1719 c DFN277 Deafness, Autosomal Recessive 102 29
1720 c DFN148 Deafness, Autosomal Dominant 16 28
1721 c DFN118 Deafness, Autosomal Dominant 44 28
1722 c DFN183 Deafness, Autosomal Recessive 83 27
1723 c DFN152 Deafness, Autosomal Dominant 27 26
1724 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 25
1725 c DFN160 Deafness, Autosomal Dominant 52 25
1726 c DFN173 Deafness, Autosomal Recessive 40 25
1727 c DFN030 Deafness, Autosomal Recessive 55 25
1728 c DFN149 Deafness, Autosomal Dominant 18 24
1729 c DFN164 Deafness, Autosomal Recessive 13 24
1730 c ATS005 Autosomal Dominant Nonsyndromic Deafness 24
1731 c DFN150 Deafness, Autosomal Dominant 21 24
1732 c DFN243 Deafness, Autosomal Recessive 88 24
1733 c DFN158 Deafness, Autosomal Dominant 49 23
1734 c DFN273 Deafness, Autosomal Recessive 101 23
1735 c DFN156 Deafness, Autosomal Dominant 43 23
1736 c OTF001 Otof-Related Deafness 23
1737 c DFN184 Deafness, Autosomal Recessive 85 23
1738 c DFN166 Deafness, Autosomal Recessive 17 23
1739 c DFN169 Deafness, Autosomal Recessive 27 23
1740 c DFN151 Deafness, Autosomal Dominant 24 23
1741 c DFN153 Deafness, Autosomal Dominant 30 23
1742 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 23
1743 c DFN154 Deafness, Autosomal Dominant 31 22
1744 c DFN272 Deafness, Autosomal Dominant 54 22
1745 c DFN257 Deafness, Autosomal Dominant 33 21
1746 P RRD005 Rare Deafness 20
1747 c DFN242 Deafness, Autosomal Recessive 70 20
1748 c DFN171 Deafness, Autosomal Recessive 33 20
1749 c DFN029 Deafness, Autosomal Recessive 51 20
1750 c DFN281 Deafness, Autosomal Recessive 103 19
1751 c DFN165 Deafness, Autosomal Recessive 14 19
1752 c DFN157 Deafness, Autosomal Dominant 47 19
1753 c DFN161 Deafness, Autosomal Dominant 53 19
1754 c DFN240 Deafness, Autosomal Recessive 96 19
1755 c DFN333 Deafness, Autosomal Dominant 73 19
1756 c DFN271 Deafness, Autosomal Dominant 58 18
1757 c DFN167 Deafness, Autosomal Recessive 20 18
1758 c DFN174 Deafness, Autosomal Recessive 44 18
1759 c DFN180 Deafness, Autosomal Recessive 65 17
1760 c DFN368 Deafness, Autosomal Dominant 74 17
1761 c DFN385 Deafness, Autosomal Dominant 78 17
1762 c DFN261 Deafness, Autosomal Recessive 46 16
1763 c DFN381 Deafness, Autosomal Dominant 75 16
1764 c DFN390 Deafness, Autosomal Dominant 80 15
1765 c DFN172 Deafness, Autosomal Recessive 38 15
1766 c DFN162 Deafness, Autosomal Dominant 59 15
1767 c FML056 Familial Deafness 15
1768 c DFN175 Deafness, Autosomal Recessive 45 14
1769 c DFN387 Deafness, Autosomal Recessive 116 13
1770 c DFN386 Deafness, Autosomal Dominant 79 13
1771 c DFN388 Deafness, Autosomal Recessive 117 12
1772 c ATS484 Autosomal Dominant Nonsyndromic Deafness 78 6
1773 c ATS485 Autosomal Dominant Nonsyndromic Deafness 79 6
1774 c ATS486 Autosomal Recessive Nonsyndromic Deafness 116 6
1775 c ATS487 Autosomal Dominant Nonsyndromic Deafness 74 6
1776 c ATS488 Autosomal Dominant Nonsyndromic Deafness 75 6
1777 c ATS489 Autosomal Dominant Nonsyndromic Deafness 76 6
1778 c ATS490 Autosomal Dominant Nonsyndromic Deafness 77 6
1779 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 5
1780 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 5
1781 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 5
1782 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 5
1783 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 5
1784 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 5
1785 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 5
1786 LBR031 Leber Optic Atrophy and Dystonia 39
1787 CHR639 Chromosome Xp11.22 Duplication Syndrome 17
1788 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 52
1789 c DFN250 Deafness, Autosomal Recessive 2 45
1790 c DFN201 Deafness, Autosomal Recessive 3 37
1791 c DFN124 Deafness, Autosomal Recessive 6 35
1792 P ADT009 Auditory Neuropathy Spectrum Disorder 34
1793 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 31
1794 RFQ001 Rafiq Syndrome 27
1795 DSS008 Disease of Mental Health 74
1796 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42
1797 VLT001 Vulto-Van Silfhout-De Vries Syndrome 41
1798 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 38
1799 GST004 Gastric Neuroendocrine Neoplasm 36
1800 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 35
1801 EPD081 Epidermoid Brain Cyst 24
1802 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 20
1803 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 17
1804 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 16
1805 FNC065 Functioning Neuroendocrine Tumor of Pancreas 15
1806 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 14
1807 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1808 INT252 Intestinal Neuroendocrine Benign Tumor 6
1809 c DFN127 Deafness, Autosomal Recessive 7 39
1810 P URF003 Urofacial Syndrome 1 56
1811 c DFN036 Deafness, X-Linked 2 44
1812 ADR003 Adrenal Neuroblastoma 27
1813 c URF002 Urofacial Syndrome 2 21
1814 ADP007 Adie Pupil 40
1815 MLS013 Miles-Carpenter Syndrome 35
1816 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 31
1817 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 30
1818 RTN232 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 25
1819 SYN062 Syncope, Familial Vasovagal 18
1820 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 17
1821 ARM005 Armfield Syndrome 16
1822 PSY004 Psychotic Disorder 66
1823 c DFN097 Deafness, Autosomal Recessive 1a 49
1824 c DFN141 Deafness, Autosomal Recessive 12 46
1825 c DFN197 Deafness, Autosomal Recessive 37 42
1826 c DFN103 Deafness, Autosomal Recessive 1b 40
1827 c DFN244 Deafness, Autosomal Recessive 42 34
1828 c DFN120 Deafness, Autosomal Recessive 39 31
1829 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 28
1830 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
1831 MNG003 Mungan Syndrome 26
1832 DFN356 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 23
1833 SBN004 Sabinas Brittle Hair Syndrome 18
1834 ANX010 Anxiety 70
1835 P ATT013 Attention Deficit-Hyperactivity Disorder 65
1836 P ART005 Arteriovenous Malformation 64
1837 DPR016 Depression 64
1838 P VSC007 Vascular Disease 62
1839 P LRG012 Large Congenital Melanocytic Nevus 48
1840 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 32
1841 KSK002 Kosaki Overgrowth Syndrome 32
1842 PLM039 Pulmonary Neuroendocrine Tumor 31
1843 GZP006 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development 23
1844 P HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 22
1845 c HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 22
1846 c RRV009 Rare Vascular Disease 13
1847 c ATT020 Attention Deficit-Hyperactivity Disorder 2 13
1848 c ATT019 Attention Deficit-Hyperactivity Disorder 1 11
1849 c ATT022 Attention Deficit-Hyperactivity Disorder 4 10
1850 c ATT021 Attention Deficit-Hyperactivity Disorder 3 10
1851 c RRR004 Rare Arteriovenous Malformation 8
1852 PST028 Post-Traumatic Stress Disorder 58
1853 P MTC069 Mitochondrial Disorders 57
1854 P BPL003 Bipolar Disorder 56
1855 c BPL002 Bipolar I Disorder 47
1856 c PRR020 Perrault Syndrome 1 34
1857 c DFN178 Deafness, Autosomal Recessive 59 32
1858 P NRN038 Neuronal Intestinal Dysplasia, Type B 31
1859 EXT065 Extraosseous Ewing Sarcoma 30
1860 WTS001 Watson Syndrome 30
1861 c PRR022 Perrault Syndrome 2 25
1862 c ALP076 Alopecia-Mental Retardation Syndrome 1 23
1863 c PRR026 Perrault Syndrome 5 22
1864 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
1865 KCN019 Kcnk9 Imprinting Syndrome 22
1866 c DFN177 Deafness, Autosomal Recessive 5 22
1867 c PRR033 Perrault Syndrome 6 21
1868 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 20
1869 NRN045 Neuroendocrine Neoplasm of Appendix 19
1870 OVR004 Ovary Neuroendocrine Neoplasm 18
1871 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 17
1872 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 16
1873 NRN033 Neuroendocrine Tumor of the Colon 16
1874 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 15
1875 c RRM002 Rrm2b-Related Mitochondrial Disease 15
1876 P MNT312 Mental Health Wellness 1 15
1877 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 12
1878 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 11
1879 c ISC017 Isca2-Related Mitochondrial Disorder 9
1880 OCL031 Oculo-Cerebral Dysplasia 8
1881 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 8
1882 PDT011 Pediatric Cns Choriocarcinoma 7
1883 MLG125 Malignant Mediastinal Neurogenic Neoplasm 7
1884 LBN005 Lubani-Al Saleh-Teebi Syndrome 6
1885 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 6
1886 XLN075 X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 4
1887 CHL153 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified 4
1888 c BPL001 Bipolar Ll Disorder 4
1889 P MJR001 Major Depressive Disorder 68
1890 MRK001 Merkel Cell Carcinoma 64
1891 c MLN065 Melanocytic Nevus Syndrome, Congenital 62
1892 P XRD029 Xeroderma Pigmentosum, Complementation Group a 55
1893 c XRD031 Xeroderma Pigmentosum, Complementation Group F 55
1894 CD4003 Cd40 Ligand Deficiency 53
1895 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 48
1896 GLT007 Glutathione Synthetase Deficiency 48
1897 c DFN351 Deafness, Autosomal Dominant 6 42
1898 c DFN354 Deafness, Autosomal Dominant 20 41
1899 c DFN098 Deafness, Autosomal Dominant 3a 41
1900 c DFN139 Deafness, Autosomal Recessive 29 41
1901 c DFN107 Deafness, Autosomal Dominant 10 40
1902 c DFN247 Deafness, Autosomal Recessive 18a 40
1903 c DFN170 Deafness, Autosomal Recessive 31 39
1904 c DFN093 Deafness, Autosomal Recessive 23 39
1905 c DFN128 Deafness, Autosomal Dominant 36 39
1906 c DFN112 Deafness, Autosomal Recessive 63 39
1907 c DFN189 Deafness, Autosomal Dominant 25 39
1908 c DFN130 Deafness, Autosomal Recessive 21 38
1909 c DFN092 Deafness, Autosomal Recessive 49 38
1910 c DFN102 Deafness, Autosomal Dominant 3b 37
1911 c DFN190 Deafness, Autosomal Dominant 2a 37
1912 c DFN143 Deafness, Autosomal Recessive 16 36
1913 c DFN202 Deafness, Autosomal Dominant 48 36
1914 c DFN262 Deafness, Autosomal Recessive 15 35
1915 c DFN121 Deafness, Autosomal Recessive 28 34
1916 c DFN132 Deafness, Autosomal Recessive 22 34
1917 c DFN258 Deafness, Autosomal Recessive 48 33
1918 MTC208 Mitochondrial Complex Iv Deficiency, Nuclear Type 2 33
1919 c DFN138 Deafness, Autosomal Recessive 53 33
1920 c DFN188 Deafness, Autosomal Recessive 61 32
1921 c DFN137 Deafness, Autosomal Dominant 13 32
1922 c DFN159 Deafness, Autosomal Dominant 5 31
1923 c DFN094 Deafness, Autosomal Dominant 28 31
1924 c DFN267 Deafness, Autosomal Dominant 4a 29
1925 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 27
1926 FGS004 Fg Syndrome 4 27
1927 c DFN255 Deafness, Autosomal Dominant 64 27
1928 NRN006 Neuroendocrine Carcinoma of the Cervix 20
1929 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 19
1930 c MJR013 Major Depressive Disorder 1 14
1931 c MJR014 Major Depressive Disorder 2 13
1932 DF1001 Deaf1-Associated Disorders 9
1933 c HMP029 Hemophilia a 69
1934 c HMP004 Hemophilia B 68
1935 P HRS035 Hirschsprung Disease 1 66
1936 P NTR004 Neutropenia 62
1937 c SVR003 Severe Congenital Neutropenia 59
1938 c XRD023 Xeroderma Pigmentosum, Complementation Group G 53
1939 P HMP007 Hemophilia 52
1940 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
1941 SMT006 Somatoform Disorder 50
1942 P ASP001 Asperger Syndrome 48
1943 c FML297 Familial Thyroid Dyshormonogenesis 47
1944 c ACQ014 Acquired Hemophilia 45
1945 LRG014 Large Cell Neuroendocrine Carcinoma 44
1946 DGL002 D-Glyceric Aciduria 40
1947 DSM002 Desmosterolosis 39
1948 BJR001 Bjornstad Syndrome 39
1949 NRD001 Neurodermatitis 39
1950 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 38
1951 LTH002 Lathosterolosis 38
1952 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 38
1953 c ACQ042 Acquired Hemophilia a 37
1954 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
1955 c HRS036 Hirschsprung Disease 2 36
1956 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 36
1957 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 36
1958 PSD088 Pseudobulbar Affect 33
1959 c THY056 Thyroid Dyshormonogenesis 3 32
1960 c THY071 Thyroid Dyshormonogenesis 1 31
1961 P THY061 Thyroid Dyshormonogenesis 2a 30
1962 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
1963 CFL005 Cafe-Au-Lait Spots, Multiple 28
1964 FKY002 Fukuyama Type Muscular Dystrophy 28
1965 TCH005 Tièche-Jadassohn Nevus 28
1966 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
1967 c THY110 Thyroid Dyshormonogenesis 6 26
1968 MN1003 Mn1 C-Terminal Truncation Syndrome 26
1969 c THY063 Thyroid Dyshormonogenesis 4 26
1970 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 26
1971 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
1972 c HRS029 Hirschsprung Disease 4 24
1973 c HRS034 Hirschsprung Disease 3 24
1974 P INT385 Intellectual Developmental Disorder, Autosomal Dominant 61 24
1975 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 24
1976 c ASP032 Asperger Syndrome 1 23
1977 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 22
1978 c THY062 Thyroid Dyshormonogenesis 5 22
1979 INT377 Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly 22
1980 c NTR045 Neutropenia, Chronic Familial 21
1981 c SVR107 Severe Congenital Neutropenia 3 20
1982 c SVR103 Severe Congenital Neutropenia 1 20
1983 SBC025 Subcortical Arteriosclerotic Encephalopathy 19
1984 ATM074 Autoimmune Autonomic Ganglionopathy 19
1985 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
1986 c ALP075 Alopecia-Mental Retardation Syndrome 2 18
1987 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 18
1988 c HRS027 Hirschsprung Disease 5 17
1989 c ASP031 Asperger Syndrome 2 17
1990 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 16
1991 c SVR110 Severe Congenital Neutropenia 4 16
1992 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 15
1993 c SVR106 Severe Congenital Neutropenia 5 14
1994 c ELN001 Elane-Related Neutropenia 14
1995 NRD120 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 14
1996 c ASP033 Asperger Syndrome 3 13
1997 c HRS024 Hirschsprung Disease 9 13
1998 c HRS028 Hirschsprung Disease 6 13
1999 c HRS026 Hirschsprung Disease 7 13
2000 c ASP034 Asperger Syndrome 4 12
2001 c ACQ053 Acquired Neutropenia 12
2002 c HRS025 Hirschsprung Disease 8 12
2003 c SVR105 Severe Congenital Neutropenia 2 10
2004 IMM028 Immune-Mediated Encephalomyelitis 10
2005 c SVR108 Severe Congenital Neutropenia 6 9
2006 c SVR104 Severe Congenital Neutropenia 7 8
2007 P OST001 Osteopetrosis 70
2008 P PRS038 Personality Disorder 65
2009 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 61
2010 P SNS001 Sensorineural Hearing Loss 60
2011 ARG007 Argininemia 58
2012 MNT002 Mental Depression 56
2013 c OST163 Osteopetrosis, Autosomal Recessive 3 54
2014 HYP691 Hypomelanosis of Ito 53
2015 c OST131 Osteopetrosis, Autosomal Dominant 2 52
2016 c OST126 Osteopetrosis, Autosomal Recessive 1 51
2017 TRC010 Trichotillomania 51
2018 c OST136 Osteopetrosis, Autosomal Recessive 7 50
2019 c OST120 Osteopetrosis, Autosomal Recessive 5 50
2020 c BRD015 Bardet-Biedl Syndrome 3 49
2021 c ATS282 Autosomal Recessive Malignant Osteopetrosis 45
2022 c OST134 Osteopetrosis, Autosomal Recessive 6 45
2023 c XRD021 Xeroderma Pigmentosum, Complementation Group E 45
2024 c DFN251 Deafness, Autosomal Dominant 11 44
2025 c OST129 Osteopetrosis, Autosomal Recessive 2 44
2026 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 44
2027 SPS057 Spasticity 43
2028 LPM010 Lipomatosis, Multiple Symmetric 43
2029 P LBY004 Labyrinthitis 42
2030 DCR008 Dicarboxylic Aminoaciduria 42
2031 c OST106 Osteopetrosis, Autosomal Recessive 8 42
2032 EMP001 Empty Sella Syndrome 41
2033 ADS004 Aids Dementia Complex 39
2034 PST053 Postherpetic Neuralgia 39
2035 ADR022 Adrenomyeloneuropathy 38
2036 c DFN108 Deafness, Autosomal Recessive 77 37
2037 MSC190 Muscular Disease 36
2038 P HRD217 Hereditary Optic Neuropathy 36
2039 DNC004 Diencephalic Syndrome 36
2040 c DFN123 Deafness, Autosomal Recessive 79 34
2041 c VRL004 Viral Labyrinthitis 34
2042 GRN006 Granulomatous Angiitis 34
2043 NRT002 Neurotic Excoriation 31
2044 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31
2045 c DFN249 Deafness, Autosomal Recessive 93 30
2046 c DFN135 Deafness, Autosomal Recessive 91 30
2047 EXT052 Extraskeletal Ewing Sarcoma 30
2048 c MLT010 Multiple Personality Disorder 29
2049 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 29
2050 c DFN253 Deafness, Autosomal Recessive 84a 28
2051 EXT051 Extracranial Arteriovenous Malformation 26
2052 P MTC140 Mitochondrial Dna Maintenance Defects 25
2053 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 25
2054 GST031 Gastric Gastrinoma 25
2055 FRN030 Frontotemporal Dementia with Parkinsonism-17 24
2056 GLL007 Gallbladder Small Cell Carcinoma 23
2057 c OST171 Osteopetrosis, Autosomal Dominant 3 22
2058 DRG004 Drug-Induced Mental Disorder 22
2059 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 22
2060 SPN447 Spinal Muscular Atrophy, Infantile, James Type 22
2061 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
2062 LKN032 Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness 21
2063 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 20
2064 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 20
2065 c DFN357 Deafness, Autosomal Recessive 47 20
2066 VCL008 Vacuolar Neuromyopathy 20
2067 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 20
2068 ALC013 Alcohol-Induced Mental Disorder 19
2069 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 19
2070 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
2071 PCD002 Pcdh19-Related Female-Limited Epilepsy 18
2072 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 18
2073 ATM091 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 18
2074 c MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect 18
2075 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 18
2076 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 17
2077 GST057 Gastro-Enteropancreatic Neuroendocrine Tumor 16
2078 SPT020 Spatial Visualization, Aptitude for 15
2079 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 15
2080 c CLC009 Clcn7-Related Osteopetrosis 15
2081 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 15
2082 PLX003 Plexosarcoma 14
2083 SPS218 Spastic Diplegia and Mental Retardation 14
2084 DFN014 Deafness Nephritis Anorectal Malformation 14
2085 IMM234 Immunodeficiency 26 14
2086 c DFN024 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 14
2087 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
2088 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
2089 FTL066 Fetal Akinesia Syndrome, X-Linked 14
2090 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 14
2091 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 14
2092 THY092 Thymic Neuroendocrine Carcinoma 14
2093 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 13
2094 NRF015 Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 13
2095 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 12
2096 STR104 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features 12
2097 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
2098 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 12
2099 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
2100 MYL068 Myelinated Optic Nerve Fibers 11
2101 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
2102 HRD035 Hair Defect with Photosensitivity and Mental Retardation 10
2103 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
2104 ESP004 Esophagus Small Cell Carcinoma 10
2105 SPT025 Sptbn4 Disorder 9
2106 MNT299 Mental and Growth Retardation with Amblyopia 9
2107 MNT250 Mental Retardation with Spastic Paraplegia 9
2108 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 9
2109 AMP002 Ampulla of Vater Small Cell Carcinoma 9
2110 HYP797 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses 8
2111 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 8
2112 c DFN028 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 8