Ear Diseases Category (1947 diseases)


Including: Ear, Hearing, Deafness, Cochlear, Auditory
See other categories (disease lists)

# Family MCID Name MIFTS
1 DFN380 Deafness, X-Linked 5, with Peripheral Neuropathy 36
2 DFN356 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 23
3 RNL126 Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss 25
4 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 23
5 BJR001 Bjornstad Syndrome 39
6 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 31
7 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45
8 MCK007 Muckle-Wells Syndrome 64
9 SCL046 Scalp-Ear-Nipple Syndrome 50
10 DF1001 Deaf1-Associated Disorders 9
11 P SPN301 Spinocerebellar Ataxia 2 59
12 c SPN309 Spinocerebellar Ataxia 6 58
13 c SPN101 Spinocerebellar Ataxia 29 58
14 c SPN294 Spinocerebellar Ataxia 1 53
15 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 52
16 c SPN291 Spinocerebellar Ataxia 7 50
17 c SPN106 Spinocerebellar Ataxia 5 49
18 c SPN311 Spinocerebellar Ataxia 13 48
19 c SPN296 Spinocerebellar Ataxia 17 48
20 c SPN304 Spinocerebellar Ataxia 8 47
21 c SPN314 Spinocerebellar Ataxia 10 47
22 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 47
23 c SPN308 Spinocerebellar Ataxia 28 47
24 c SPN293 Spinocerebellar Ataxia 12 46
25 c SPN312 Spinocerebellar Ataxia 14 46
26 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 45
27 c SPN305 Spinocerebellar Ataxia 11 45
28 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
29 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
30 c SPN290 Spinocerebellar Ataxia 15 42
31 c SPN265 Spinocerebellar Ataxia 36 42
32 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
33 c SPN100 Spinocerebellar Ataxia 27 41
34 c SPN104 Spinocerebellar Ataxia 34 41
35 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
36 c SPN284 Spinocerebellar Ataxia 38 40
37 c SPN097 Spinocerebellar Ataxia 23 40
38 c SPN096 Spinocerebellar Ataxia 21 40
39 c SPN266 Spinocerebellar Ataxia 35 40
40 c SPN103 Spinocerebellar Ataxia 31 39
41 c SPN247 Spinocerebellar Ataxia Type 19/22 38
42 c SPN105 Spinocerebellar Ataxia 4 38
43 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 38
44 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
45 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 38
46 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 37
47 c SPN419 Spinocerebellar Ataxia 45 36
48 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 36
49 c SPN283 Spinocerebellar Ataxia 37 36
50 c SPN102 Spinocerebellar Ataxia 30 35
51 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
52 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 34
53 c SPN299 Spinocerebellar Ataxia 20 33
54 c SPN383 Spinocerebellar Ataxia 42 33
55 c SPN095 Spinocerebellar Ataxia 19 33
56 c SPN099 Spinocerebellar Ataxia 26 33
57 c SPN094 Spinocerebellar Ataxia 18 32
58 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
59 c SPN427 Spinocerebellar Ataxia 48 31
60 NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 30
61 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 30
62 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 29
63 c SPN098 Spinocerebellar Ataxia 25 29
64 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
65 c SPN421 Spinocerebellar Ataxia 47 27
66 c SPN286 Spinocerebellar Ataxia 40 27
67 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
68 c SPN418 Spinocerebellar Ataxia 44 27
69 c SPN420 Spinocerebellar Ataxia 46 27
70 c SPN372 Spinocerebellar Ataxia 43 26
71 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
72 c SPN323 Spinocerebellar Ataxia 41 25
73 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
74 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
75 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 23
76 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
77 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 21
78 c SPN259 Spinocerebellar Ataxia 32 19
79 c SPN107 Spinocerebellar Ataxia 9 16
80 c GRD008 Grid2-Related Spinocerebellar Ataxia 7
81 CRN075 Crandall Syndrome 16
82 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 29
83 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 16
84 HRN029 Hearing Loss, Noise-Induced 37
85 P CNR040 Cone-Rod Dystrophy and Hearing Loss 1 27
86 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 16
87 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 11
88 P SPN202 Spinocerebellar Ataxia, X-Linked 1 41
89 c SPN364 Spinocerebellar Ataxia, X-Linked 3 39
90 c SPN363 Spinocerebellar Ataxia, X-Linked 4 36
91 c SPN203 Spinocerebellar Ataxia, X-Linked 5 31
92 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 28
93 c SPN403 Spinocerebellar Ataxia, X-Linked 2 21
94 DFN355 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 18
95 DFN363 Deafness, Autosomal Recessive 26, Modifier of 15
96 P ZMM001 Zimmermann-Laband Syndrome 39
97 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 37
98 c ZMM002 Zimmermann-Laband Syndrome 1 35
99 JHN004 Johnson Neuroectodermal Syndrome 28
100 c ZMM003 Zimmermann-Laband Syndrome 2 23
101 c ZMM004 Zimmermann-Laband Syndrome 3 22
102 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 22
103 AYM001 Ayme-Gripp Syndrome 57
104 c EPL114 Epilepsy, Familial Temporal Lobe, 1 50
105 P TMP001 Temporal Lobe Epilepsy 49
106 c EPL152 Epilepsy, Familial Temporal Lobe, 8 39
107 c EPL081 Epilepsy, Familial Temporal Lobe, 5 37
108 c EPL115 Epilepsy, Familial Temporal Lobe, 2 36
109 ICH035 Ichthyosis, Hystrix-Like, with Deafness 28
110 c EPL128 Epilepsy, Familial Temporal Lobe, 3 28
111 c EPL113 Epilepsy, Familial Temporal Lobe, 4 22
112 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 18
113 c EPL124 Epilepsy, Familial Temporal Lobe, 6 18
114 DFN002 Dfnx1 Nonsyndromic Hearing Loss and Deafness 8
115 HRD108 Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay 6
116 XLN075 X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 4
117 QST001 Question Mark Ears, Isolated 20
118 SYS006 Say Syndrome 27
119 DFN362 Deafness, Autosomal Dominant 34, with or Without Inflammation 22
120 MCR337 Microtia with Meatal Atresia and Conductive Deafness 16
121 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 15
122 RTN215 Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 13
123 CNT099 Contractural Arachnodactyly, Congenital 55
124 ATS301 Autosomal Dominant Epilepsy with Auditory Features 41
125 DFN038 Dfnb1 35
126 CRT007 Cortical Deafness 26
127 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19
128 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 13
129 ERX001 Ear Exostoses 13
130 ERP001 Ear Pits, Posterior Helical 11
131 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 11
132 SCH028 Schlegelberger Grote Syndrome 7
133 THC006 Thickened Earlobes-Conductive Deafness Syndrome 6
134 P OTF004 Otofaciocervical Syndrome 1 39
135 SSC001 Susac Syndrome 32
136 ADT001 Auditory Agnosia 25
137 ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 21
138 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 21
139 c CNR041 Cone-Rod Dystrophy and Hearing Loss 2 19
140 TND007 Tune Deafness 19
141 AYZ001 Ayazi Syndrome 9
142 P AXN002 Axenfeld-Rieger Syndrome 62
143 c AXN010 Axenfeld-Rieger Syndrome, Type 3 48
144 c AXN009 Axenfeld-Rieger Syndrome, Type 1 48
145 OCL048 Oculoauricular Syndrome 36
146 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
147 MDF002 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 24
148 LBR032 Leber Congenital Amaurosis with Early-Onset Deafness 18
149 SPN450 Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis 17
150 ODN026 Odontochondrodysplasia 2 with Hearing Loss and Diabetes 12
151 HRN018 Hearing Loss, Cisplatin-Induced 10
152 FTZ004 Fitzsimmons Walson Mellor Syndrome 7
153 P BRT004 Bartter Disease 58
154 MNK003 Muenke Syndrome 57
155 c BRT042 Bartter Syndrome, Type 3 47
156 RRG078 Rare Genetic Deafness 38
157 ERM002 Ear Malformation 37
158 ARL004 Aural Atresia, Congenital 32
159 c BRT024 Bartter Syndrome Type 4 25
160 HRD199 Hereditary Hearing Loss and Deafness 25
161 DFN341 Deafness, Unilateral 24
162 DFN013 Deafness Mixed with Perilymphatic Gusher, X-Linked 22
163 APC009 Apocrine Gland Secretion, Variation in 19
164 VRB001 Verbal Auditory Agnosia 18
165 WLF014 Wolfram Syndrome, Mitochondrial Form 18
166 NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 17
167 RSM002 Rasmussen Johnsen Thomsen Syndrome 17
168 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 15
169 THM020 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 14
170 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 14
171 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 14
172 XLN128 X-Linked Intellectual Disability, Abidi Type 13
173 RNL112 Renal, Genital, and Middle Ear Anomalies 13
174 NNS010 Nonsyndromic Hearing Loss and Deafness, Mitochondrial 13
175 DFN001 Dfna2 Nonsyndromic Hearing Loss 12
176 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 12
177 ATR086 Atresia of External Auditory Canal and Conductive Deafness 8
178 CRN284 Corneal Degeneration, Ribbonlike, with Deafness 8
179 SNT001 Santos Mateus Leal Syndrome 8
180 c DFN028 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 8
181 CNG091 Congenital Ectodermal Dysplasia with Hearing Loss 7
182 BGT001 Bagatelle Cassidy Syndrome 6
183 SCR042 Secretory Diarrhea, Myopathy, and Deafness 6
184 P LRS001 Larsen Syndrome 61
185 CGN006 Cogan Syndrome 49
186 KPR003 Keipert Syndrome 43
187 P ARC016 Auriculocondylar Syndrome 1 41
188 c LRS002 Larsen-Like Syndrome 37
189 MN1003 Mn1 C-Terminal Truncation Syndrome 26
190 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 24
191 SDD011 Siddiqi Syndrome 23
192 MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 12
193 RMS002 Ramos Arroyo Clark Syndrome 9
194 P PRX021 Proximal Symphalangism 50
195 RTN187 Retinitis Pigmentosa-Deafness Syndrome 48
196 WRS002 Warsaw Breakage Syndrome 47
197 c SPL067 Split-Hand/foot Malformation 1 46
198 c SPL024 Split-Hand/foot Malformation 3 43
199 P SPL061 Split Hand-Foot Malformation 43
200 c SPL034 Split-Hand/foot Malformation 4 38
201 c SPL033 Split-Hand/foot Malformation 6 37
202 OTD001 Otodental Dysplasia 32
203 c SPL070 Split-Hand/foot Malformation 2 31
204 c SPL025 Split-Hand/foot Malformation 5 29
205 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 28
206 c OTF003 Otofaciocervical Syndrome 2 27
207 c NNN034 Noonan Syndrome 12 27
208 CMP067 Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 27
209 CRM002 Ceruminoma 25
210 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 24
211 LKN032 Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness 21
212 PHV001 Phaver Syndrome 20
213 SVR009 Seaver Cassidy Syndrome 19
214 MND005 Mondini Dysplasia 18
215 DFN389 Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy 17
216 ARC009 Auriculoosteodysplasia 16
217 P AGR013 Age-Related Hearing Impairment 1 13
218 HRY009 Hairy Ears, Y-Linked 10
219 c AGR014 Age-Related Hearing Impairment 2 10
220 MHS001 Mehes Syndrome 7
221 RZC001 Ruzicka Goerz Anton Syndrome 6
222 SHR016 Short Stature Deafness Neutrophil Dysfunction 4
223 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 4
224 MRD002 Marden-Walker Syndrome 56
225 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 45
226 SWN003 Sweeney-Cox Syndrome 39
227 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 38
228 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 36
229 CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 32
230 WLD004 Wildervanck Syndrome 28
231 RSM003 Rasmussen Subacute Encephalitis 26
232 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 25
233 HYP144 Hyperacusis 23
234 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 22
235 PRR015 Preauricular Fistulae, Congenital 20
236 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 20
237 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 18
238 SMS004 Simosa Craniofacial Syndrome 17
239 MCR351 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 14
240 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 14
241 c DFN024 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 14
242 ECT024 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 13
243 CLF043 Cleft Palate, Deafness, and Oligodontia 13
244 SPN413 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 12
245 NPH050 Nephropathy, Progressive, with Deafness 11
246 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 11
247 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 11
248 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
249 OSS016 Ossified Ear Cartilages 10
250 SPT025 Sptbn4 Disorder 9
251 HYP738 Hyperlipoproteinemia, Type Ii, and Deafness 9
252 PLM166 Pulmonic Stenosis and Deafness 9
253 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 8
254 RTN205 Retinitis Pigmentosa Inversa with Deafness 8
255 EPP023 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 8
256 HYP797 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses 8
257 ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 8
258 ERF003 Ear Folding 8
259 MYC082 Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 7
260 DFN359 Deafness, Unilateral, with Delayed Endolymphatic Hydrops 7
261 ERW002 Ear Without Helix 7
262 CLF022 Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 7
263 EXC005 Exchondrosis of Pinna, Posterior 7
264 DFN339 Deafness, Mid-Tone Neural 7
265 TBB007 Tibia, Absence of, with Congenital Deafness 7
266 DFN342 Deafness with Anhidrotic Ectodermal Dysplasia 7
267 IDK001 Iida Kannari Syndrome 7
268 PFF002 Pfeiffer Kapferer Syndrome 7
269 SCH020 Schaap Taylor Baraitser Syndrome 7
270 ERR001 Earring Holes, Natural 7
271 DFN346 Deafness, Neural, Congenital Moderate 6
272 FLS002 Flushing of Ears and Somnolence 6
273 ERN001 Ear Antitragus, Tag at Base of 6
274 ERS003 Ears, Ability to Move 5
275 ERF002 Ear Flare 5
276 DVN001 Davenport Donlan Syndrome 5
277 FCL079 Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 4
278 BRC117 Brachydactyly, Intraventricular Septal Defect, and Deafness 4
279 CCH003 Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 4
280 c DFN025 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 3
281 c DFN026 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 3
282 DWR004 Dwarfism Deafness Retinitis Pigmentosa 2
283 ENC015 Enchondromatosis Dwarfism Deafness 2
284 CRD024 Cardiomyopathy Diabetes Deafness 2
285 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 2
286 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 2
287 CLF016 Cleft Palate Colobomata Radial Synostosis Deafness 1
288 DFN008 Deafness Goiter Stippled Epiphyses 1
289 DFN011 Deafness Hypospadias Metacarpal and Metatarsal Syndrome 1
290 DFN019 Deafness Progressive Cataract Autosomal Dominant 1
291 DFN022 Deafness X-Linked, Dfn3 1
292 DFN032 Deafness, Isolated, Due to Mitochondrial Transmission 1
293 DFN037 Deafness, X-Linked, Dfn 1
294 GLS014 Glossopalatine Ankylosis Micrognathia Ear Anomalies 1
295 c NRF024 Neurofibromatosis, Type I 76
296 c LNG044 Long Qt Syndrome 1 66
297 ALS001 Alstrom Syndrome 65
298 P LNG028 Long Qt Syndrome 63
299 P TRC072 Treacher Collins Syndrome 1 62
300 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57
301 c FML191 Familial Long Qt Syndrome 54
302 ACR013 Acrodysostosis 53
303 c LNG048 Long Qt Syndrome 3 52
304 MTN003 Motion Sickness 50
305 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 50
306 SPC010 Speech and Communication Disorders 47
307 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 47
308 BRN062 Burn-Mckeown Syndrome 46
309 c LNG050 Long Qt Syndrome 5 45
310 c LNG051 Long Qt Syndrome 6 45
311 c CNG199 Congenital Disorder of Glycosylation, Type Im 44
312 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
313 c CNG383 Congenital Disorder of Glycosylation, Type Iik 43
314 c LNG053 Long Qt Syndrome 9 43
315 c LNG098 Long Qt Syndrome 14 43
316 P LBY004 Labyrinthitis 42
317 SPP008 Suppurative Otitis Media 42
318 c LNG045 Long Qt Syndrome 10 41
319 c LNG096 Long Qt Syndrome 15 41
320 c CNG498 Congenital Disorder of Glycosylation, Type Iin 41
321 c LNG056 Long Qt Syndrome 12 41
322 MST019 Mastoiditis 41
323 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 41
324 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 41
325 c LNG057 Long Qt Syndrome 13 39
326 c LNG046 Long Qt Syndrome 11 39
327 c DVL040 Developmental and Epileptic Encephalopathy 12 37
328 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
329 PRP028 Peripheral Vertigo 37
330 TYM001 Tympanosclerosis 36
331 c DVL061 Developmental and Epileptic Encephalopathy 34 36
332 PTL001 Patulous Eustachian Tube 36
333 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 35
334 c ART060 Arthrogryposis, Distal, Type 1b 34
335 c CHR097 Chronic Purulent Otitis Media 34
336 c DVL057 Developmental and Epileptic Encephalopathy 31 32
337 c ART131 Arthrogryposis, Distal, Type 4 29
338 SRS004 Serous Labyrinthitis 29
339 FRS007 Frias Syndrome 28
340 CCH001 Cochlear Disease 28
341 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
342 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 26
343 c DVL115 Developmental and Epileptic Encephalopathy 92 26
344 EST006 Eustachian Tube Disease 26
345 MTC212 Mitchell Syndrome 26
346 c DVL101 Developmental and Epileptic Encephalopathy 78 26
347 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
348 SPC001 Space Motion Sickness 26
349 c DVL080 Developmental and Epileptic Encephalopathy 56 26
350 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
351 c CHR015 Chronic Tympanitis 25
352 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25
353 P PRL012 Purulent Acute Otitis Media 25
354 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24
355 c LNG052 Long Qt Syndrome 8 24
356 c DVL098 Developmental and Epileptic Encephalopathy 74 24
357 c CLR053 Ciliary Dyskinesia, Primary, 11 24
358 c DVL085 Developmental and Epileptic Encephalopathy 61 23
359 c NNN029 Noonan Syndrome 11 23
360 c TWN010 Townes-Brocks Syndrome 2 22
361 TYM002 Tympanic Membrane Disease 22
362 CMB063 Combined Oxidative Phosphorylation Deficiency 25 22
363 MYR001 Myringitis Bullosa Hemorrhagica 22
364 c LNG114 Long Qt Syndrome 16 22
365 PRL021 Perilymphatic Fistula 21
366 RCM004 Recombinant 8 Syndrome 20
367 OTS003 Otosalpingitis 20
368 c ARC017 Auriculocondylar Syndrome 3 20
369 c MLT166 Multiple Synostoses Syndrome 4 20
370 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 19
371 NNS006 Non-Suppurative Otitis Media 18
372 P ACT001 Acute Tympanitis 18
373 c OTS007 Otosclerosis 3 17
374 c OTS006 Otosclerosis 2 16
375 c OTS012 Otosclerosis 10 16
376 c OTS010 Otosclerosis 7 15
377 c OTS008 Otosclerosis 4 14
378 ACT083 Acute Serous Otitis Media 12
379 FCL006 Focal Labyrinthitis 10
380 TXC006 Toxic Labyrinthitis 9
381 CG5002 Cog5-Congenital Disorder of Glycosylation 9
382 PRC015 Perichondritis of Auricle 8
383 CCH007 Cochleovestibular Dysplasia 8
384 CHR042 Chronic Atticoantral Disease 8
385 CHR259 Chromosome 6q25 Microdeletion Syndrome 7
386 CHR049 Chronic Tubotympanic Suppurative Otitis Media 7
387 CHR052 Chronic Fungal Otitis Externa 6
388 OTM002 Otomandibular Dysplasia 6
389 1P3003 1p35.2 Microdeletion Syndrome 6
390 c CHR007 Chronic Eustachian Salpingitis 6
391 ACT014 Active Vestibular Meniere's Disease 6
392 BLD055 Blue Drum Syndrome 6
393 P ACT045 Acute Eustachian Salpingitis 5
394 ACT013 Active Cochleovestibular Meniere's Disease 5
395 ACT015 Active Cochlear Meniere's Disease 5
396 c CHR041 Chronic Perichondritis of Pinna 5
397 ACT082 Acute Sanguinous Otitis Media 5
398 BLT002 Bilateral Hyperactive Labyrinth 5
399 LBY002 Labyrinthine Bilateral Reactive Loss 5
400 LBY001 Labyrinthine Unilateral Reactive Loss 5
401 UNL001 Unilateral Hyperactive Labyrinth 5
402 BLT004 Bilateral Hypoactive Labyrinth 5
403 ATR004 Atrophic Nonflaccid Tympanic Membrane 4
404 ATR006 Atrophic Flaccid Tympanic Membrane 4
405 CHN078 Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome 4
406 ACT044 Acute Infection of Pinna 4
407 P ACT007 Acute Perichondritis of Pinna 4
408 UNL003 Unilateral Hypoactive Labyrinth 4
409 c DLT002 Dilated Cardiomyopathy 79
410 c CRD093 Cardiomyopathy, Dilated, 1a 55
411 c CRD099 Cardiomyopathy, Dilated, 1e 53
412 c CRD097 Cardiomyopathy, Dilated, 1d 47
413 c CRD187 Cardiomyopathy, Dilated, 3b 47
414 c CRD233 Cardiomyopathy, Dilated, 1b 47
415 c CRD091 Cardiomyopathy, Dilated, 1dd 43
416 c CRD105 Cardiomyopathy, Dilated, 1o 42
417 c CRD080 Cardiomyopathy, Dilated, 1g 42
418 c CRD069 Cardiomyopathy, Dilated, 1h 42
419 c CRD102 Cardiomyopathy, Dilated, 1j 41
420 c CRD090 Cardiomyopathy, Dilated, 1l 41
421 c CRD114 Cardiomyopathy, Dilated, 1m 37
422 c CRD082 Cardiomyopathy, Dilated, 1gg 37
423 c CRD104 Cardiomyopathy, Dilated, 1p 36
424 c LMN001 Lmna-Related Dilated Cardiomyopathy 34
425 c CRD101 Cardiomyopathy, Dilated, 1x 32
426 c CRD096 Cardiomyopathy, Dilated, 1ee 31
427 c CRD155 Cardiomyopathy, Dilated, 1kk 30
428 c ATM102 Autoimmune Cardiomyopathy 30
429 c CRD107 Cardiomyopathy, Dilated, 1r 29
430 c CRD063 Cardiomyopathy, Dilated, 2a 28
431 c CRD159 Cardiomyopathy, Dilated, 1hh 28
432 c CRD111 Cardiomyopathy, Dilated, 1i 25
433 c CRD162 Cardiomyopathy, Dilated, 1ii 25
434 c CRD149 Cardiomyopathy, Dilated, 1jj 24
435 c CRD064 Cardiomyopathy, Dilated, 1ff 24
436 c CRD060 Cardiomyopathy, Dilated, 1z 24
437 c CRD092 Cardiomyopathy, Dilated, 1w 24
438 c CRD113 Cardiomyopathy, Dilated, 1v 23
439 c CRD112 Cardiomyopathy, Dilated, 1u 23
440 c CRD115 Cardiomyopathy, Dilated, 1cc 23
441 c CRD153 Cardiomyopathy, Dilated, 2b 23
442 c CRD108 Cardiomyopathy, Dilated, 1bb 23
443 c DLT017 Dilated Cardiomyopathy 1t 21
444 c CRD173 Cardiomyopathy, Dilated, 1nn 21
445 c CRD244 Cardiomyopathy, Dilated, 2c 20
446 P RRC004 Rare Cardiomyopathy 16
447 c CRD070 Cardiomyopathy, Dilated, 1k 13
448 c CRD071 Cardiomyopathy, Dilated, 1q 13
449 c CRD027 Cardiomyopathy Due to Anthracyclines 9
450 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
451 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
452 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
453 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46
454 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 44
455 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
456 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
457 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
458 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 42
459 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
460 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
461 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
462 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 26
463 RNL127 Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss 39
464 ABC001 Abcd Syndrome 44
465 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 23
466 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 63
467 KNS001 Kniest Dysplasia 50
468 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 50
469 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 47
470 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 47
471 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 47
472 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 46
473 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 46
474 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 42
475 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 41
476 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 41
477 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 40
478 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 39
479 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 38
480 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 38
481 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 37
482 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 36
483 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 36
484 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 36
485 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 36
486 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 36
487 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 35
488 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 34
489 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 32
490 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 32
491 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 29
492 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 27
493 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
494 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 25
495 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
496 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 13
497 c PRG018 Paragangliomas 1 59
498 P PRG013 Paraganglioma 57
499 c PRG020 Paragangliomas 3 39
500 c PRG021 Paragangliomas 4 38
501 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 34
502 c PRG019 Paragangliomas 2 30
503 c PRG094 Paragangliomas 5 29
504 c PRG137 Paragangliomas 6 20
505 c PRG138 Paragangliomas 7 19
506 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 5
507 KTL001 Keutel Syndrome 41
508 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 16
509 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 12
510 MCR041 Macrothrombocytopenia Progressive Deafness 4
511 CDS002 Codas Syndrome 44
512 CBL011 Cebalid Syndrome 29
513 ACS001 Acoustic Neuroma 55
514 OST022 Osteopathia Striata with Cranial Sclerosis 54
515 SPN060 Spondylocarpotarsal Synostosis Syndrome 50
516 SPN154 Spondyloperipheral Dysplasia 36
517 LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 35
518 EVN003 Even-Plus Syndrome 27
519 NRM024 Neuromuscular Oculoauditory Syndrome 20
520 VLJ001 Viljoen Kallis Voges Syndrome 15
521 RRD001 Reardon Wilson Cavanagh Syndrome 7
522 NRF008 Neurofibromatosis-Noonan Syndrome 56
523 RSD004 Rosai-Dorfman Disease 49
524 c FRN049 Frontometaphyseal Dysplasia 1 42
525 c EPL150 Epilepsy, Familial Temporal Lobe, 7 37
526 CMB064 Combined Oxidative Phosphorylation Deficiency 24 29
527 MLL023 Mullegama-Klein-Martinez Syndrome 29
528 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
529 c OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 18
530 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
531 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
532 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 13
533 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 12
534 OSS006 Ossicular Malformations, Familial 10
535 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
536 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 10
537 CRB178 Cerebellar Ataxia and Neurosensory Deafness 10
538 ATX044 Ataxia, Deafness, and Cardiomyopathy 9
539 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
540 MDD017 Middle Ear Neuroendocrine Tumor 9
541 KSZ001 Kasznica Carlson Coppedge Syndrome 8
542 OST161 Osteoma of Middle Ear 8
543 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
544 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
545 SNS025 Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 5
546 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
547 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 2
548 NNN026 Noonan Syndrome with Multiple Lentigines 64
549 KRN002 Kearns-Sayre Syndrome 62
550 c CLR131 Ciliary Dyskinesia, Primary, 1 62
551 P ENC004 Encephalitis 61
552 P WLF004 Wolfram Syndrome 61
553 c ART144 Arthrogryposis, Distal, Type 1a 61
554 NRR002 Norrie Disease 59
555 CLF004 Cleft Lip/palate 56
556 P MLT007 Multiple Epiphyseal Dysplasia 56
557 c CCK007 Cockayne Syndrome B 56
558 HMF006 Hemifacial Microsomia 55
559 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 54
560 CLF001 Cleft Lip 54
561 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54
562 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 54
563 P CRB101 Cerebrooculofacioskeletal Syndrome 1 53
564 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52
565 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 52
566 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 51
567 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 51
568 c VRL007 Viral Encephalitis 50
569 c DVL033 Developmental and Epileptic Encephalopathy 1 50
570 MHR001 Mohr-Tranebjaerg Syndrome 49
571 ADT003 Auditory System Disease 48
572 c EPP017 Epiphyseal Dysplasia, Multiple, 1 48
573 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47
574 c WRD031 Waardenburg Syndrome, Type 3 46
575 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 46
576 c CHR320 Chiari Malformation Type I 46
577 c EPP014 Epiphyseal Dysplasia, Multiple, 4 45
578 CNT017 Central Nervous System Origin Vertigo 44
579 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
580 RPP001 Rapp-Hodgkin Syndrome 44
581 c CNG185 Congenital Disorder of Glycosylation, Type Iig 44
582 c EPP013 Epiphyseal Dysplasia, Multiple, 5 44
583 c CHR579 Chiari Malformation Type Ii 44
584 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 43
585 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 43
586 P OTT001 Otitis Externa 43
587 c CLR136 Ciliary Dyskinesia, Primary, 9 42
588 P NNS072 Nonsyndromic Hearing Loss 42
589 c USH021 Usher Syndrome, Type Iid 42
590 c EPP012 Epiphyseal Dysplasia, Multiple, 2 42
591 c AGR019 Age-Related Hearing Loss 41
592 P CHR342 Chiari Malformation 41
593 c CNG189 Congenital Disorder of Glycosylation, Type Ib 40
594 c CLR066 Ciliary Dyskinesia, Primary, 2 40
595 MCR103 Microtia 40
596 VST004 Vestibular Disease 40
597 c ATM075 Autoimmune Encephalitis 39
598 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 39
599 c EPP015 Epiphyseal Dysplasia, Multiple, 3 39
600 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 38
601 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 37
602 c DFN269 Deafness, Autosomal Recessive 98 37
603 c NNS007 Nonsyndromic Deafness 36
604 c ATM021 Autoimmune Inner Ear Disease 36
605 CRB079 Cerebrospinal Fluid Leak 35
606 c EPP009 Epiphyseal Dysplasia, Multiple, 6 35
607 c DVL043 Developmental and Epileptic Encephalopathy 15 35
608 c CLR059 Ciliary Dyskinesia, Primary, 13 34
609 c CLR042 Ciliary Dyskinesia, Primary, 6 34
610 c CLR095 Ciliary Dyskinesia, Primary, 19 34
611 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 34
612 c RNL125 Renal Tubular Acidosis, Distal, 1 34
613 c FRS015 Fraser Syndrome 3 33
614 c XLN110 X-Linked Charcot-Marie-Tooth Disease 33
615 c DFN095 Deafness, Autosomal Recessive 25 32
616 c CLR094 Ciliary Dyskinesia, Primary, 28 32
617 ACR017 Acrofacial Dysostosis 32
618 c CLR056 Ciliary Dyskinesia, Primary, 10 32
619 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 31
620 c DVL069 Developmental and Epileptic Encephalopathy 44 31
621 c CLR106 Ciliary Dyskinesia, Primary, 26 30
622 c CCK004 Cockayne Syndrome Type Iii 30
623 c CLR102 Ciliary Dyskinesia, Primary, 17 30
624 c CLR134 Ciliary Dyskinesia, Primary, 3 30
625 EXT056 External Ear Disease 29
626 c SYM022 Symphalangism, Proximal, 1a 29
627 c CLR116 Ciliary Dyskinesia, Primary, 29 29
628 c USH030 Usher Syndrome, Type Ik 29
629 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
630 OTM001 Otomycosis 29
631 ADH006 Adhesive Otitis Media 28
632 c CLR091 Ciliary Dyskinesia, Primary, 14 28
633 c CLR104 Ciliary Dyskinesia, Primary, 15 28
634 c DVL058 Developmental and Epileptic Encephalopathy 32 28
635 c CLR135 Ciliary Dyskinesia, Primary, 7 28
636 STP011 Stapes Ankylosis with Broad Thumbs and Toes 28
637 c MLT060 Multiple Synostoses Syndrome 2 28
638 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28
639 c DFN374 Deafness, Autosomal Recessive 100 28
640 c CLR069 Ciliary Dyskinesia, Primary, 8 28
641 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 28
642 c ARC011 Auriculocondylar Syndrome 2 28
643 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 28
644 c DVL114 Developmental and Epileptic Encephalopathy 91 27
645 c HYP860 Hypothyroidism, Congenital, Nongoitrous, 7 27
646 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 27
647 49X001 49, Xxxxx 27
648 c DVL091 Developmental and Epileptic Encephalopathy 67 27
649 c DVL089 Developmental and Epileptic Encephalopathy 65 27
650 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 27
651 c CLR067 Ciliary Dyskinesia, Primary, 4 27
652 c CLR123 Ciliary Dyskinesia, Primary, 37 27
653 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 26
654 PRL001 Purulent Labyrinthitis 26
655 c DVL079 Developmental and Epileptic Encephalopathy 55 26
656 HMF010 Hemifacial Microsomia with Radial Defects 26
657 c HRD219 Hereditary Distal Renal Tubular Acidosis 26
658 c DVL068 Developmental and Epileptic Encephalopathy 43 26
659 c DVL093 Developmental and Epileptic Encephalopathy 69 25
660 c CLR054 Ciliary Dyskinesia, Primary, 12 25
661 c DVL075 Developmental and Epileptic Encephalopathy 51 25
662 c DVL107 Developmental and Epileptic Encephalopathy 84 25
663 c CLR114 Ciliary Dyskinesia, Primary, 30 25
664 c MLG042 Malignant Otitis Externa 25
665 c CLR097 Ciliary Dyskinesia, Primary, 23 25
666 P OTP008 Otopalatodigital Syndrome Spectrum Disorder 25
667 c DVL070 Developmental and Epileptic Encephalopathy 45 25
668 c SYM019 Symphalangism, Proximal, 1b 25
669 c OTS005 Otosclerosis 1 25
670 c CLR140 Ciliary Dyskinesia, Primary, 40 24
671 c CLR101 Ciliary Dyskinesia, Primary, 25 24
672 c CLR125 Ciliary Dyskinesia, Primary, 33 24
673 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 24
674 c PRR024 Perrault Syndrome 3 24
675 c CLR098 Ciliary Dyskinesia, Primary, 27 24
676 c CLR092 Ciliary Dyskinesia, Primary, 18 24
677 c CLR105 Ciliary Dyskinesia, Primary, 20 23
678 FNT003 Fountain Syndrome 23
679 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 23
680 CHR457 Chromosome 17p13.1 Deletion Syndrome 23
681 DRG025 Drug-Induced Hearing Loss 23
682 c CLR117 Ciliary Dyskinesia, Primary, 32 23
683 c HYP857 Hypothyroidism, Congenital, Nongoitrous, 8 23
684 c EPP026 Epiphyseal Dysplasia, Multiple, 7 23
685 c CLR090 Ciliary Dyskinesia, Primary, 22 23
686 c DVL065 Developmental and Epileptic Encephalopathy 40 23
687 c CLR099 Ciliary Dyskinesia, Primary, 16 23
688 BRN121 Branchiootorenal/branchiootic Syndrome 22
689 c DFN367 Deafness, Autosomal Recessive 110 22
690 c CLR142 Ciliary Dyskinesia, Primary, 42 22
691 HLP032 Holoprosencephaly 13, X-Linked 22
692 c CLR138 Ciliary Dyskinesia, Primary, 38 22
693 c CLR107 Ciliary Dyskinesia, Primary, 24 22
694 c CLR139 Ciliary Dyskinesia, Primary, 39 22
695 c CLR143 Ciliary Dyskinesia, Primary, 43 22
696 DSC001 Discharging Ear 22
697 c CLR088 Ciliary Dyskinesia, Primary, 21 22
698 SHR119 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 21
699 NTH002 Nathalie Syndrome 21
700 c TRC126 Treacher Collins Syndrome 4 21
701 DFN308 Deafness, Progressive, with Stapes Fixation 21
702 c CLR126 Ciliary Dyskinesia, Primary, 35 21
703 c HYP858 Hypothyroidism, Congenital, Nongoitrous, 9 21
704 PHN002 Phonagnosia 21
705 c CLR145 Ciliary Dyskinesia, Primary, 45 20
706 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 20
707 c CLR124 Ciliary Dyskinesia, Primary, 34 20
708 c ART168 Arthrogryposis, Distal, Type 1c 19
709 19P001 19p13.12 Microdeletion Syndrome 19
710 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 19
711 c CLR144 Ciliary Dyskinesia, Primary, 44 19
712 CHR499 Chromosome 16q22 Deletion Syndrome 18
713 c INF186 Infectious Encephalitis 18
714 CHR400 Chromosome 6q11-Q14 Deletion Syndrome 18
715 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 18
716 c CLR141 Ciliary Dyskinesia, Primary, 41 18
717 c DYS212 Dystonia 30 18
718 c DFN180 Deafness, Autosomal Recessive 65 17
719 c CHR692 Chronic Encephalitis 17
720 c OTS011 Otosclerosis 8 14
721 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 14
722 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 14
723 MDD006 Middle Ear Cholesterol Granuloma 13
724 c DFN387 Deafness, Autosomal Recessive 116 13
725 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
726 INT027 Internal Auditory Canal Meningioma 13
727 c DFN386 Deafness, Autosomal Dominant 79 13
728 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13
729 c OTS009 Otosclerosis 5 12
730 CCH008 Cochlear Nerve Deficiency 12
731 CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 11
732 PLY016 Polyp of Middle Ear 10
733 c CHR161 Chiari Malformation Type 3 10
734 TRS013 Trisomy 3 Mosaicism 8
735 c RNL048 Renal Tubular Acidosis, Distal, Type 3 7
736 c ATS484 Autosomal Dominant Nonsyndromic Deafness 78 6
737 CHL020 Cholesteatoma of Attic 6
738 c CHR162 Chiari Malformation Type 4 6
739 EXT043 External Auditory Canal Aplasia/hypoplasia 6
740 c PRX100 Proximal Symphalangism 2 5
741 SRS002 Serous Glue Ear 5
742 c PRX099 Proximal Symphalangism 1 4
743 NCR006 Necrosis of Ear Ossicle 4
744 DSL001 Dislocation of Ear Ossicle 3
745 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
746 OTM003 Otomandibular Dysplasia Associated with Monogenic Syndromes 3
747 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 39
748 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
749 c CRB193 Cerebral Amyloid Angiopathy, App-Related 55
750 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 43
751 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 40
752 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
753 SKN019 Skin Melanoma 70
754 P PRM011 Primary Ciliary Dyskinesia 68
755 FML345 Familial Expansile Osteolysis 46
756 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 31
757 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
758 P SCH015 Schizophrenia 74
759 P LKD001 Leukodystrophy 58
760 SPN008 Spondyloepiphyseal Dysplasia Congenita 54
761 c TRC092 Trichorhinophalangeal Syndrome, Type I 54
762 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 51
763 P RNL015 Renal Hypertension 45
764 c SCH079 Schizophrenia 1 44
765 c ERL020 Early-Onset Schizophrenia 43
766 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 38
767 c SCH056 Schizophrenia 15 38
768 P TRC031 Trichorhinophalangeal Syndrome 37
769 c SCH075 Schizophrenia 19 36
770 c SCH051 Schizophrenia 4 35
771 c RNL113 Renal Failure, Progressive, with Hypertension 31
772 c SCH083 Schizophrenia 7 29
773 c SCH087 Schizophrenia 18 28
774 c SCH080 Schizophrenia 3 27
775 c SCH081 Schizophrenia 6 27
776 c SCH085 Schizophrenia 2 27
777 c SCH064 Schizophrenia 10 27
778 c SCH084 Schizophrenia 8 27
779 c SCH053 Schizophrenia 13 27
780 c SCH073 Schizophrenia 9 25
781 c SCH061 Schizophrenia 16 24
782 c SCH082 Schizophrenia 5 23
783 c SCH045 Schizophrenia 12 23
784 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 23
785 c SCH086 Schizophrenia 11 21
786 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
787 c SCH052 Schizophrenia 14 19
788 c TBB006 Tubb4a-Related Leukodystrophy 15
789 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
790 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 5
791 OTT002 Otitis Media 70
792 ART002 Arts Syndrome 66
793 P MNN013 Meningitis 65
794 DGR001 Digeorge Syndrome 62
795 P SNS001 Sensorineural Hearing Loss 60
796 c WLF013 Wolfram Syndrome 1 60
797 TTZ003 Tietz Albinism-Deafness Syndrome 59
798 c ART061 Arthrogryposis, Distal, Type 2a 58
799 WLF002 Wolf-Hirschhorn Syndrome 57
800 c FRS014 Fraser Syndrome 1 56
801 MNR012 Meniere Disease 55
802 APH002 Aphasia 55
803 c BCT007 Bacterial Meningitis 55
804 P TWN003 Townes-Brocks Syndrome 55
805 c DVL042 Developmental and Epileptic Encephalopathy 14 53
806 LND001 Landau-Kleffner Syndrome 50
807 P INN002 Inner Ear Disease 49
808 c WRD020 Waardenburg Syndrome, Type 4a 49
809 c DVL038 Developmental and Epileptic Encephalopathy 7 48
810 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 48
811 c DVL029 Developmental and Epileptic Encephalopathy 2 47
812 c DVL027 Developmental and Epileptic Encephalopathy 9 47
813 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47
814 c DVL034 Developmental and Epileptic Encephalopathy 3 46
815 BNT003 Bent Bone Dysplasia Syndrome 46
816 P DVL113 Developmental and Epileptic Encephalopathy 46
817 MDD010 Middle Ear Disease 46
818 c VRL012 Viral Meningitis 46
819 c ART155 Arthrogryposis, Distal, Type 2b1 46
820 c DFN136 Deafness, Autosomal Dominant 9 46
821 c XLN229 X-Linked Chondrodysplasia Punctata 2 46
822 c DVL037 Developmental and Epileptic Encephalopathy 5 45
823 MYH015 Myh-9 Related Disease 45
824 c DVL118 Developmental and Epileptic Encephalopathy 94 45
825 ABR009 Abruzzo-Erickson Syndrome 45
826 c DVL041 Developmental and Epileptic Encephalopathy 13 44
827 c DFN251 Deafness, Autosomal Dominant 11 44
828 c ALP105 Alport Syndrome 2, Autosomal Recessive 43
829 ARC008 Auriculo-Condylar Syndrome 43
830 RHY001 Rhyns Syndrome 42
831 c DFN197 Deafness, Autosomal Recessive 37 42
832 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
833 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42
834 SDD008 Sudden Sensorineural Hearing Loss 41
835 c DVL039 Developmental and Epileptic Encephalopathy 11 41
836 SPR126 Superior Semicircular Canal Dehiscence 41
837 c DYS151 Dystonia 25 41
838 c NRP039 Neuropathy, Hereditary Sensory, Type Id 41
839 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 40
840 c DVL030 Developmental and Epileptic Encephalopathy 36 40
841 c DVL028 Developmental and Epileptic Encephalopathy 8 40
842 BNG018 Benign Paroxysmal Positional Nystagmus 40
843 c DVL035 Developmental and Epileptic Encephalopathy 4 40
844 c DVL049 Developmental and Epileptic Encephalopathy 23 39
845 c DFN170 Deafness, Autosomal Recessive 31 39
846 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 39
847 c DVL036 Developmental and Epileptic Encephalopathy 39 39
848 c DFN128 Deafness, Autosomal Dominant 36 39
849 c NNN020 Noonan Syndrome 7 39
850 TRM011 Terminal Osseous Dysplasia 39
851 c DVL044 Developmental and Epileptic Encephalopathy 16 39
852 c DVL052 Developmental and Epileptic Encephalopathy 26 39
853 c DVL077 Developmental and Epileptic Encephalopathy 53 39
854 NNS044 Non-Syndromic Genetic Deafness 38
855 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 38
856 c DVL055 Developmental and Epileptic Encephalopathy 29 38
857 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 38
858 c DFN117 Deafness, Autosomal Dominant 15 37
859 P SCH017 Schindler Disease 37
860 DFN350 Deafness, Aminoglycoside-Induced 37
861 c DVL060 Developmental and Epileptic Encephalopathy 50 37
862 c SCH069 Schindler Disease, Type I 37
863 ARC025 Arachnoid Cysts, Intracranial 37
864 c CHR091 Chronic Meningitis 37
865 c DFN108 Deafness, Autosomal Recessive 77 37
866 c DVL050 Developmental and Epileptic Encephalopathy 24 37
867 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 36
868 c DVL059 Developmental and Epileptic Encephalopathy 33 36
869 c USH031 Usher Syndrome, Type Ij 36
870 c DFN274 Deafness, Autosomal Dominant 56 36
871 c XLN227 X-Linked Chondrodysplasia Punctata 1 35
872 SPR006 Sparganosis 35
873 c DVL067 Developmental and Epileptic Encephalopathy 42 35
874 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 35
875 c DVL045 Developmental and Epileptic Encephalopathy 17 35
876 MHR002 Mohr Syndrome 35
877 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 35
878 c PRR020 Perrault Syndrome 1 34
879 c DFN155 Deafness, Autosomal Dominant 41 34
880 c VRL004 Viral Labyrinthitis 34
881 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 34
882 c DFN278 Deafness, Autosomal Dominant 65 33
883 c DVL100 Developmental and Epileptic Encephalopathy 76 33
884 P ALB003 Albinism-Deafness Syndrome 33
885 c NRP036 Neuropathy, Hereditary Sensory, Type if 33
886 c NNS018 Nonsyndromic Paraganglioma 33
887 c DFN147 Deafness, X-Linked 4 33
888 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 32
889 PRG023 Progeroid Short Stature with Pigmented Nevi 32
890 ACR079 Acrodysostosis with Multiple Hormone Resistance 32
891 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 32
892 DFN256 Deafness and Myopia 32
893 c DFN178 Deafness, Autosomal Recessive 59 32
894 c DFN260 Deafness, Autosomal Recessive 89 32
895 c MLT059 Multiple Synostoses Syndrome 1 32
896 c DFN137 Deafness, Autosomal Dominant 13 32
897 c DFN119 Deafness, Autosomal Dominant 50 32
898 c DVL046 Developmental and Epileptic Encephalopathy 18 31
899 TTR014 Tetrasomy 18p 31
900 c DVL054 Developmental and Epileptic Encephalopathy 28 31
901 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31
902 c DVL053 Developmental and Epileptic Encephalopathy 27 31
903 c DVL090 Developmental and Epileptic Encephalopathy 66 30
904 c DFN249 Deafness, Autosomal Recessive 93 30
905 c DFN135 Deafness, Autosomal Recessive 91 30
906 c USH043 Usher Syndrome, Type Ih 30
907 c DFN246 Deafness, Autosomal Dominant 51 30
908 c ORF041 Orofaciodigital Syndrome X 30
909 c DVL103 Developmental and Epileptic Encephalopathy 80 30
910 c DFN327 Deafness, Autosomal Dominant 70 29
911 c DVL062 Developmental and Epileptic Encephalopathy 35 29
912 NSY001 N Syndrome 29
913 c DFN179 Deafness, Autosomal Recessive 62 29
914 c DVL048 Developmental and Epileptic Encephalopathy 21 29
915 c DVL063 Developmental and Epileptic Encephalopathy 37 29
916 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 29
917 c DFN276 Deafness, X-Linked 6 29
918 c DFN277 Deafness, Autosomal Recessive 102 29
919 c DFN253 Deafness, Autosomal Recessive 84a 28
920 c TRC073 Treacher Collins Syndrome 2 28
921 c DVL094 Developmental and Epileptic Encephalopathy 70 28
922 c DVL099 Developmental and Epileptic Encephalopathy 75 27
923 c DVL056 Developmental and Epileptic Encephalopathy 30 27
924 c DVL078 Developmental and Epileptic Encephalopathy 54 27
925 c DFN146 Deafness, X-Linked 3 27
926 c DVL088 Developmental and Epileptic Encephalopathy 64 27
927 c DFN183 Deafness, Autosomal Recessive 83 27
928 c DVL076 Developmental and Epileptic Encephalopathy 52 27
929 ADT002 Auditory System Cancer 27
930 c DVL066 Developmental and Epileptic Encephalopathy 41 26
931 c DVL047 Developmental and Epileptic Encephalopathy 19 26
932 c DVL072 Developmental and Epileptic Encephalopathy 47 26
933 c ART157 Arthrogryposis, Distal, Type 2b3 26
934 c DVL064 Developmental and Epileptic Encephalopathy 38 26
935 c DVL073 Developmental and Epileptic Encephalopathy 48 26
936 c SYN073 Syngap1-Related Intellectual Disability 26
937 c DVL071 Developmental and Epileptic Encephalopathy 46 26
938 c DVL092 Developmental and Epileptic Encephalopathy 68 25
939 c DVL081 Developmental and Epileptic Encephalopathy 57 25
940 c DVL074 Developmental and Epileptic Encephalopathy 49 25
941 MDD008 Middle Ear Adenoma 25
942 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 25
943 c DVL097 Developmental and Epileptic Encephalopathy 73 25
944 c DVL109 Developmental and Epileptic Encephalopathy 87 25
945 c DVL083 Developmental and Epileptic Encephalopathy 59 25
946 SNJ003 Snijders Blok-Fisher Syndrome 25
947 c DVL086 Developmental and Epileptic Encephalopathy 62 25
948 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 25
949 c USH011 Usher Syndrome, Type 2b 25
950 c DVL084 Developmental and Epileptic Encephalopathy 60 24
951 c DVL112 Developmental and Epileptic Encephalopathy 89 24
952 EXT023 External Ear Carcinoma 24
953 c DVL104 Developmental and Epileptic Encephalopathy 81 24
954 c MLT078 Multiple Synostoses Syndrome 3 24
955 c ATS005 Autosomal Dominant Nonsyndromic Deafness 24
956 c DVL116 Developmental and Epileptic Encephalopathy 93 24
957 EPD081 Epidermoid Brain Cyst 24
958 c DVL087 Developmental and Epileptic Encephalopathy 63 24
959 DFN313 Deafness-Hypogonadism Syndrome 24
960 c DVL105 Developmental and Epileptic Encephalopathy 82 24
961 c DVL102 Developmental and Epileptic Encephalopathy 79 24
962 c DVL095 Developmental and Epileptic Encephalopathy 71 24
963 ACR101 Acrocraniofacial Dysostosis 23
964 c DFN273 Deafness, Autosomal Recessive 101 23
965 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
966 c DFN361 Deafness, Autosomal Recessive 106 23
967 c DFN156 Deafness, Autosomal Dominant 43 23
968 c OTF001 Otof-Related Deafness 23
969 c DFN151 Deafness, Autosomal Dominant 24 23
970 c DFN153 Deafness, Autosomal Dominant 30 23
971 BLP009 Blepharonasofacial Malformation Syndrome 23
972 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 23
973 c DVL096 Developmental and Epileptic Encephalopathy 72 23
974 c DVL106 Developmental and Epileptic Encephalopathy 83 22
975 c DFN373 Deafness, Autosomal Recessive 113 22
976 c DYS138 Dystonia 21 22
977 c DVL082 Developmental and Epileptic Encephalopathy 58 22
978 c DFN272 Deafness, Autosomal Dominant 54 22
979 CLC058 Clcn2-Related Leukoencephalopathy 22
980 c DFN177 Deafness, Autosomal Recessive 5 22
981 c KMT002 Kmt2b-Related Dystonia 21
982 c DVL110 Developmental and Epileptic Encephalopathy 88 21
983 c DFN378 Deafness, Autosomal Recessive 99 21
984 c DFN329 Deafness, Autosomal Dominant 66 21
985 c DFN257 Deafness, Autosomal Dominant 33 21
986 c DVL108 Developmental and Epileptic Encephalopathy 86 20
987 ERM001 Ermine Phenotype 20
988 P YLN003 Y-Linked Deafness 20
989 c DFN265 Deafness, Autosomal Recessive 76 20
990 c DFN357 Deafness, Autosomal Recessive 47 20
991 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 20
992 c DFN029 Deafness, Autosomal Recessive 51 20
993 HYP489 Hypotrichosis-Deafness Syndrome 19
994 c DFN281 Deafness, Autosomal Recessive 103 19
995 c DFN157 Deafness, Autosomal Dominant 47 19
996 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 19
997 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 19
998 c DFN271 Deafness, Autosomal Dominant 58 18
999 VST006 Vestibulocochlear Nerve Disease 18
1000 c BRN073 Branchiootic Syndrome 2 18
1001 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 18
1002 c DFN382 Deafness, Autosomal Dominant 76 18
1003 c DFN328 Deafness, Autosomal Dominant 72 17
1004 c DVL032 Developmental and Epileptic Encephalopathy 90 17
1005 c DFN335 Deafness, Autosomal Dominant 71 17
1006 c DFN377 Deafness, Autosomal Recessive 115 17
1007 DFN307 Deafness-Oligodontia Syndrome 17
1008 c DFN337 Deafness, Autosomal Recessive 107 17
1009 c DFN325 Deafness, Autosomal Recessive 108 17
1010 c DFN368 Deafness, Autosomal Dominant 74 17
1011 c DFN385 Deafness, Autosomal Dominant 78 17
1012 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 16
1013 MCR306 Microcephaly-Deafness Syndrome 16
1014 c DFN376 Deafness, Autosomal Recessive 114 16
1015 GMG001 Gemignani Syndrome 16
1016 DFN311 Deafness-Craniofacial Syndrome 16
1017 c DFN381 Deafness, Autosomal Dominant 75 16
1018 TRN073 Trnt1 Deficiency 16
1019 ERL045 Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 15
1020 c DFN390 Deafness, Autosomal Dominant 80 15
1021 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 15
1022 OPT078 Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome 15
1023 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 15
1024 c ART054 Arthrogryposis, Distal, Type 2e 15
1025 c BCL018 Bcl11a-Related Intellectual Disability 14
1026 DFN014 Deafness Nephritis Anorectal Malformation 14
1027 10Q004 10q26 Deletion Syndrome 14
1028 c CSK002 Cask-Related Intellectual Disability 14
1029 OLV003 Olivopontocerebellar Atrophy Deafness 14
1030 c DVL119 Developmental and Epileptic Encephalopathy 6b 13
1031 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 13
1032 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 13
1033 c ORF006 Orofaciodigital Syndrome 13 12
1034 P RRN017 Rare Intellectual Disability 12
1035 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 12
1036 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 12
1037 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
1038 c DFN345 Deafness, Congenital, with Total Albinism 11
1039 CHL021 Cholesteatoma of External Ear 11
1040 c TRR002 Trio-Related Intellectual Disability 10
1041 c WCR002 Wac-Related Intellectual Disability 10
1042 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 10
1043 c WDR002 Wdr26-Related Intellectual Disability 10
1044 ALZ038 Alezzandrini Syndrome 10
1045 c HVP001 Hivep2-Related Intellectual Disability 10
1046 c ATS403 Autosomal Dominant Intellectual Disability 40 10
1047 EXT018 External Ear Basal Cell Carcinoma 9
1048 MLG028 Malignant Neoplasm of Acoustic Nerve 9
1049 SHR127 Short Stature-Skeletal Dysplasia-Retinal Degeneration-Intellectual Disability-Sensorineural Hearing Loss Syndrome 9
1050 c ATS360 Autosomal Recessive Intellectual Disability 58 8
1051 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1052 BCH001 Beach Ear 7
1053 ISL023 Isolated Congenital Auditory Ossicle Malformation 6
1054 c ATS488 Autosomal Dominant Nonsyndromic Deafness 75 6
1055 c ATS489 Autosomal Dominant Nonsyndromic Deafness 76 6
1056 ACT002 Acute Allergic Serous Otitis Media 5
1057 ACT025 Acute Allergic Sanguinous Otitis Media 5
1058 ACT063 Acute Allergic Mucoid Otitis Media 5
1059 NRP028 Neuropathy with Hearing Impairment 5
1060 CNG582 Congenital Disorder of Glycosylation with Deafness As a Major Feature 5
1061 c ATS348 Autosomal Dominant Intellectual Disability 30 5
1062 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 5
1063 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 5
1064 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 5
1065 c DDX001 Ddx3x-Related Intellectual Disability 4
1066 LPD013 Lipidosis with Triglycerid Storage Disease 3
1067 PNN007 Pinnae and External Auditory Canal Anomaly 3
1068 c OTS004 Otosclerosis, Familial 3
1069 c NNS013 Nonsyndromic Hereditary Sensorineural Hearing Loss 2
1070 P PGT001 Paget's Disease of Bone 60
1071 BRJ001 Borjeson-Forssman-Lehmann Syndrome 50
1072 c PGT007 Paget Disease of Bone 3 39
1073 c PGT009 Paget Disease of Bone 2, Early-Onset 34
1074 c PGT011 Paget Disease of Bone 6 25
1075 c PGT006 Paget Disease of Bone 4 16
1076 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 14
1077 c NRF023 Neurofibromatosis, Type Ii 70
1078 P ALP004 Alport Syndrome 69
1079 CLF027 Cleft Palate, Isolated 64
1080 P DYS154 Dystonia 64
1081 c BRN108 Branchiootic Syndrome 1 63
1082 P DST002 Distal Arthrogryposis 63
1083 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 61
1084 P WRD001 Waardenburg's Syndrome 60
1085 c LNG047 Long Qt Syndrome 2 59
1086 c OTP007 Otopalatodigital Syndrome, Type Ii 57
1087 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 56
1088 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 55
1089 P OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 52
1090 CRN048 Craniofacial-Deafness-Hand Syndrome 52
1091 c ART119 Arthrogryposis, Distal, Type 5 51
1092 c USH035 Usher Syndrome Type 2 51
1093 CHL122 Cholesteatoma of Middle Ear 51
1094 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 50
1095 c ART120 Arthrogryposis, Distal, Type 3 50
1096 P OTS001 Otosclerosis 49
1097 c OST121 Osteogenesis Imperfecta, Type Iv 48
1098 P LPR012 Leopard Syndrome 1 48
1099 P HRD021 Hereditary Sensory Neuropathy 48
1100 CHD004 Chudley-Mccullough Syndrome 47
1101 c USH041 Usher Syndrome, Type if 47
1102 c USH040 Usher Syndrome, Type Id 47
1103 c ART147 Arthrogryposis, Distal, Type 7 45
1104 c DFN133 Deafness, Autosomal Recessive 9 45
1105 P MLT072 Multiple Synostoses Syndrome 45
1106 c USH020 Usher Syndrome, Type Iic 45
1107 CRN045 Corneal Dystrophy and Perceptive Deafness 44
1108 CRD221 Cardiospondylocarpofacial Syndrome 43
1109 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
1110 c DFN354 Deafness, Autosomal Dominant 20 41
1111 c ART104 Arthrogryposis, Distal, Type 5d 41
1112 c DFN203 Deafness, Autosomal Recessive 30 41
1113 c CNG198 Congenital Disorder of Glycosylation, Type Il 41
1114 c DFN139 Deafness, Autosomal Recessive 29 41
1115 P HML047 Heimler Syndrome 1 40
1116 c DFN103 Deafness, Autosomal Recessive 1b 40
1117 c USH042 Usher Syndrome, Type Ig 40
1118 c DFN093 Deafness, Autosomal Recessive 23 39
1119 c DFN353 Deafness, Autosomal Dominant 12 38
1120 c NNN012 Noonan Syndrome 5 37
1121 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
1122 c DFN252 Deafness, Autosomal Recessive 24 37
1123 c ATS076 Autosomal Recessive Stickler Syndrome 37
1124 c CNG188 Congenital Disorder of Glycosylation, Type if 37
1125 c DYS172 Dystonia 27 36
1126 c DFN202 Deafness, Autosomal Dominant 48 36
1127 c STC013 Stickler Syndrome, Type Ii 36
1128 c ATS006 Autosomal Recessive Nonsyndromic Deafness 36
1129 c ART112 Arthrogryposis, Distal, Type 10 36
1130 XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 35
1131 c DFN280 Deafness, Autosomal Recessive 35
1132 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 35
1133 c DFN194 Deafness, X-Linked 1 35
1134 c LPR011 Leopard Syndrome 2 35
1135 P BRN042 Branchiootic Syndrome 34
1136 c DFN121 Deafness, Autosomal Recessive 28 34
1137 c DFN123 Deafness, Autosomal Recessive 79 34
1138 c DFN259 Deafness, Autosomal Recessive 86 34
1139 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
1140 c DFN360 Deafness, Autosomal Dominant 69 34
1141 c WRD022 Waardenburg Syndrome, Type 2d 34
1142 LCH015 Lichtenstein-Knorr Syndrome 33
1143 c DFN364 Deafness, Autosomal Recessive 57 33
1144 VST001 Vestibular Neuronitis 33
1145 c DFN138 Deafness, Autosomal Recessive 53 33
1146 c BRN086 Branchiootorenal Syndrome 2 33
1147 c NNN024 Noonan Syndrome 9 32
1148 HYP674 Hyperostosis Cranialis Interna 32
1149 c DFN248 Deafness, Autosomal Recessive 18b 31
1150 c DFN181 Deafness, Autosomal Recessive 66 31
1151 c DFN159 Deafness, Autosomal Dominant 5 31
1152 c JRV002 Jervell and Lange-Nielsen Syndrome 2 31
1153 c DFN192 Deafness, Autosomal Dominant 23 31
1154 c DFN163 Deafness, Autosomal Dominant 7 31
1155 c WRD010 Waardenburg Syndrome Type 4 31
1156 c DFN254 Deafness, Autosomal Recessive 84b 30
1157 LMB010 Lambert Syndrome 30
1158 c DFN116 Deafness, Autosomal Recessive 74 30
1159 c DFN099 Deafness, Autosomal Dominant 2b 30
1160 c PRR021 Perrault Syndrome 4 29
1161 c DFN284 Deafness, Autosomal Dominant 67 29
1162 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 29
1163 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
1164 c DFN375 Deafness, Autosomal Recessive 94 28
1165 c XLN004 X-Linked Nonsyndromic Deafness 28
1166 c ART128 Arthrogryposis, Distal, Type 6 28
1167 MCR119 Microtia, Hearing Impairment, and Cleft Palate 28
1168 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 28
1169 PTR001 Petrositis 28
1170 c DFN118 Deafness, Autosomal Dominant 44 28
1171 NRD058 Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures 27
1172 c BRN128 Branchiootic Syndrome 3 27
1173 MYP163 Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay 27
1174 c DFN283 Deafness, Autosomal Recessive 104 27
1175 MCR093 Microtia-Anotia 26
1176 c DFN168 Deafness, Autosomal Recessive 26 26
1177 c DFN152 Deafness, Autosomal Dominant 27 26
1178 MDD004 Middle Ear Adenocarcinoma 26
1179 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 26
1180 c LPR007 Leopard Syndrome 3 26
1181 c DFN186 Deafness, Y-Linked 1 26
1182 c ART156 Arthrogryposis, Distal, Type 2b2 25
1183 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 25
1184 c DFN160 Deafness, Autosomal Dominant 52 25
1185 FBR088 Fibromatosis, Gingival, with Progressive Deafness 25
1186 c PRR022 Perrault Syndrome 2 25
1187 c DFN173 Deafness, Autosomal Recessive 40 25
1188 c DFN030 Deafness, Autosomal Recessive 55 25
1189 HLP031 Holoprosencephaly 12 with or Without Pancreatic Agenesis 24
1190 c DFN149 Deafness, Autosomal Dominant 18 24
1191 c DFN164 Deafness, Autosomal Recessive 13 24
1192 c DFN150 Deafness, Autosomal Dominant 21 24
1193 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1194 c FCL056 Facial Paresis, Hereditary Congenital, 3 24
1195 c DFN158 Deafness, Autosomal Dominant 49 23
1196 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 23
1197 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 23
1198 c DFN370 Deafness, X-Linked 7 23
1199 c DFN184 Deafness, Autosomal Recessive 85 23
1200 IST007 Isotretinoin Embryopathy-Like Syndrome 23
1201 c DFN169 Deafness, Autosomal Recessive 27 23
1202 BRN123 Branchial Arch Syndrome, X-Linked 22
1203 ATX037 Ataxia-Deafness-Retardation Syndrome 22
1204 INT036 Internal Auditory Canal Lipoma 21
1205 P RRD005 Rare Deafness 20
1206 OPT079 Optic Atrophy 13 with Retinal and Foveal Abnormalities 20
1207 c BRN138 Branchiootorenal Spectrum Disorder 20
1208 c DFN242 Deafness, Autosomal Recessive 70 20
1209 c DFN171 Deafness, Autosomal Recessive 33 20
1210 BRN125 Branchiogenic-Deafness Syndrome 19
1211 c DFN165 Deafness, Autosomal Recessive 14 19
1212 c DFN161 Deafness, Autosomal Dominant 53 19
1213 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
1214 SPS192 Spastic Paraparesis and Deafness 19
1215 c DFN240 Deafness, Autosomal Recessive 96 19
1216 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 19
1217 c DFN369 Deafness, Autosomal Recessive 111 19
1218 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 18
1219 c DFN167 Deafness, Autosomal Recessive 20 18
1220 MYC074 Myoclonus, Cerebellar Ataxia, and Deafness 18
1221 c DFN365 Deafness, Autosomal Recessive 109 18
1222 P HRD043 Hereditary Congenital Facial Paresis 18
1223 c USH046 Usher Syndrome, Type 1m 18
1224 c DFN371 Deafness, Autosomal Recessive 112 17
1225 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 16
1226 c DFN261 Deafness, Autosomal Recessive 46 16
1227 TYS007 Tyshchenko Syndrome 16
1228 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
1229 c DFN172 Deafness, Autosomal Recessive 38 15
1230 c DFN162 Deafness, Autosomal Dominant 59 15
1231 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 15
1232 c FML056 Familial Deafness 15
1233 KZL006 Kozlowski-Krajewska Syndrome 14
1234 c DFN388 Deafness, Autosomal Recessive 117 12
1235 RNL032 Renal Caliceal Diverticuli Deafness 10
1236 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
1237 c RRD039 Rare Dystonia 9
1238 SYN137 Syndromic Genetic Deafness 9
1239 EXT004 External Auditory Meatus Lipoma 8
1240 c ATS486 Autosomal Recessive Nonsyndromic Deafness 116 6
1241 c ATS487 Autosomal Dominant Nonsyndromic Deafness 74 6
1242 INN001 Inner Ear Cancer 6
1243 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 5
1244 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 5
1245 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 5
1246 P CCK001 Cockayne Syndrome 67
1247 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66
1248 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66
1249 CHR103 Charge Syndrome 65
1250 P OST135 Osteogenesis Imperfecta, Type I 60
1251 c USH036 Usher Syndrome, Type I 60
1252 P STC001 Stickler Syndrome 60
1253 c CHL140 Chilblain Lupus 1 59
1254 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 57
1255 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 56
1256 P FBR025 Fibrochondrogenesis 55
1257 c LKD019 Leukodystrophy, Hypomyelinating, 6 52
1258 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 52
1259 P SLV027 Silver-Russell Syndrome 1 52
1260 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
1261 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 50
1262 P VHW001 Vohwinkel Syndrome 50
1263 P BRW001 Brown-Vialetto-Van Laere Syndrome 49
1264 KRT010 Kartagener Syndrome 49
1265 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 49
1266 BRT001 Bart-Pumphrey Syndrome 49
1267 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
1268 c LKD010 Leukodystrophy, Hypomyelinating, 2 48
1269 c DYS059 Dystonia 16 48
1270 c NNN011 Noonan Syndrome 4 47
1271 c LKD009 Leukodystrophy, Hypomyelinating, 5 46
1272 c DFN141 Deafness, Autosomal Recessive 12 46
1273 c FBR029 Fibrochondrogenesis 1 45
1274 c BRN131 Branchiootorenal Syndrome 1 45
1275 DFN384 Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 44
1276 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 43
1277 c RNG023 Ring Chromosome 7 43
1278 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
1279 c DFN200 Deafness, Autosomal Dominant 17 43
1280 c DFN196 Deafness, Autosomal Dominant 22 43
1281 c LKD015 Leukodystrophy, Hypomyelinating, 3 43
1282 c LKD020 Leukodystrophy, Hypomyelinating, 10 42
1283 c WRD024 Waardenburg Syndrome, Type 4c 42
1284 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 42
1285 c DFN351 Deafness, Autosomal Dominant 6 42
1286 c XLN231 X-Linked Alport Syndrome 41
1287 CHR594 Chromosome 3q29 Deletion Syndrome 41
1288 c DFN098 Deafness, Autosomal Dominant 3a 41
1289 c DFN247 Deafness, Autosomal Recessive 18a 40
1290 c LKD023 Leukodystrophy, Hypomyelinating, 12 40
1291 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1292 c NNN021 Noonan Syndrome 8 39
1293 c DFN112 Deafness, Autosomal Recessive 63 39
1294 P RNG032 Ring Chromosome 39
1295 c DFN189 Deafness, Autosomal Dominant 25 39
1296 c OST110 Osteogenesis Imperfecta, Type Xv 38
1297 c DYS146 Dystonia 24 38
1298 c DFN092 Deafness, Autosomal Recessive 49 38
1299 c DFN102 Deafness, Autosomal Dominant 3b 37
1300 c DFN190 Deafness, Autosomal Dominant 2a 37
1301 c DFN201 Deafness, Autosomal Recessive 3 37
1302 c CNG192 Congenital Disorder of Glycosylation, Type Ik 37
1303 c DFN352 Deafness, Autosomal Recessive 8 37
1304 c DFN182 Deafness, Autosomal Recessive 71 36
1305 c OST128 Osteogenesis Imperfecta, Type Xii 36
1306 c DFN143 Deafness, Autosomal Recessive 16 36
1307 c LKD021 Leukodystrophy, Hypomyelinating, 11 36
1308 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 36
1309 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
1310 c DFN111 Deafness, Autosomal Recessive 35 35
1311 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 35
1312 P HYP700 Hypomyelinating Leukodystrophy 35
1313 c DFN330 Deafness, Autosomal Recessive 97 35
1314 DSN002 Desanto-Shinawi Syndrome 35
1315 c LKD016 Leukodystrophy, Hypomyelinating, 9 35
1316 PNT009 Pontine Tegmental Cap Dysplasia 34
1317 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 34
1318 c DFN244 Deafness, Autosomal Recessive 42 34
1319 c NNN013 Noonan Syndrome 6 34
1320 c DFN132 Deafness, Autosomal Recessive 22 34
1321 P ADT009 Auditory Neuropathy Spectrum Disorder 34
1322 c DYS145 Dystonia 23 33
1323 c CRB100 Cerebrooculofacioskeletal Syndrome 4 33
1324 c SLV028 Silver-Russell Syndrome 3 33
1325 c DFN188 Deafness, Autosomal Recessive 61 32
1326 c RNG004 Ring Chromosome 1 32
1327 MXL016 Maxillonasal Dysplasia, Binder Type 32
1328 c RNG017 Ring Chromosome 21 32
1329 c DFN120 Deafness, Autosomal Recessive 39 31
1330 c RNG029 Ring Chromosome 14 Syndrome 31
1331 c FRS016 Fraser Syndrome 2 31
1332 c RNG020 Ring Chromosome 4 31
1333 c DFN094 Deafness, Autosomal Dominant 28 31
1334 c ORF036 Orofaciodigital Syndrome Xiv 31
1335 c DFN266 Deafness, Autosomal Dominant 4b 31
1336 c RNG008 Ring Chromosome 13 31
1337 c CRB098 Cerebrooculofacioskeletal Syndrome 2 30
1338 CZC002 Czech Dysplasia 30
1339 c RNG018 Ring Chromosome 22 30
1340 c VHW003 Vohwinkel Syndrome, Variant Form 29
1341 MDD009 Middle Ear Carcinoma 29
1342 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29
1343 c DFN267 Deafness, Autosomal Dominant 4a 29
1344 c TRC071 Treacher Collins Syndrome 3 29
1345 c DFN148 Deafness, Autosomal Dominant 16 28
1346 DFN039 Deafness-Infertility Syndrome 28
1347 c RNG022 Ring Chromosome 6 28
1348 c RNG024 Ring Chromosome 8 28
1349 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 28
1350 c RNG007 Ring Chromosome 12 27
1351 c LKD028 Leukodystrophy, Hypomyelinating, 15 27
1352 c RNG010 Ring Chromosome 15 27
1353 c DFN255 Deafness, Autosomal Dominant 64 27
1354 c RNG016 Ring Chromosome 20 26
1355 c RNG005 Ring Chromosome 10 26
1356 c SLV029 Silver-Russell Syndrome 2 26
1357 c USH045 Usher Syndrome, Type Iv 26
1358 c CNG617 Congenital Disorder of Glycosylation, Type Iit 26
1359 SNT004 Sinoatrial Node Dysfunction and Deafness 26
1360 c FBR030 Fibrochondrogenesis 2 26
1361 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
1362 c RNG013 Ring Chromosome 18 25
1363 c LKD031 Leukodystrophy, Hypomyelinating, 18 25
1364 CMB096 Combined Oxidative Phosphorylation Deficiency 40 25
1365 c CHL114 Chilblain Lupus 2 25
1366 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 24
1367 c LKD027 Leukodystrophy, Hypomyelinating, 14 24
1368 c SLV031 Silver-Russell Syndrome 5 24
1369 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 24
1370 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 24
1371 c LKD022 Leukodystrophy, Hypomyelinating, 13 24
1372 c DFN243 Deafness, Autosomal Recessive 88 24
1373 c DFN166 Deafness, Autosomal Recessive 17 23
1374 c DFN134 Deafness, Autosomal Dominant 40 22
1375 c DFN154 Deafness, Autosomal Dominant 31 22
1376 c PRR026 Perrault Syndrome 5 22
1377 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
1378 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 22
1379 c RNG015 Ring Chromosome 2 22
1380 LWR016 Lowry-Maclean Syndrome 21
1381 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 21
1382 c PRR033 Perrault Syndrome 6 21
1383 P FML337 Familial Chilblain Lupus 20
1384 c LKD033 Leukodystrophy, Hypomyelinating, 20 20
1385 c SLV030 Silver-Russell Syndrome 4 20
1386 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 20
1387 c STC011 Stickler Syndrome, Type V 20
1388 c DFN336 Deafness, Autosomal Dominant 68 20
1389 c RNG021 Ring Chromosome 5 20
1390 c RNG012 Ring Chromosome 17 20
1391 c RNG025 Ring Chromosome 9 19
1392 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 19
1393 c RNG006 Ring Chromosome 11 19
1394 c RNG019 Ring Chromosome 3 19
1395 c DFN333 Deafness, Autosomal Dominant 73 19
1396 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 19
1397 DFN306 Deafness, Conductive, with Malformed External Ear 19
1398 P DFN296 Deafness-Onychodystrophy Syndrome 19
1399 c DFN174 Deafness, Autosomal Recessive 44 18
1400 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 18
1401 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 18
1402 c RNG014 Ring Chromosome 19 17
1403 ADT010 Auditory System Benign Neoplasm 17
1404 c RNG011 Ring Chromosome 16 17
1405 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1406 c RNG031 Ring Chromosome Y Syndrome 16
1407 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 16
1408 c LKD034 Leukodystrophy, Hypomyelinating, 21 15
1409 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 15
1410 c DFN383 Deafness, Autosomal Dominant 77 15
1411 c DFN175 Deafness, Autosomal Recessive 45 14
1412 TNG006 Tunglang Savage Bellman Syndrome 13
1413 CTR153 Cataract-Deafness-Hypogonadism Syndrome 13
1414 CDL001 Caudal Appendage Deafness 12
1415 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 10
1416 NTR053 Neutropenia-Monocytopenia-Deafness Syndrome 9
1417 P DSR041 Disorder of Multiple Glycosylation 7
1418 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 7
1419 c ATS485 Autosomal Dominant Nonsyndromic Deafness 79 6
1420 c ATS490 Autosomal Dominant Nonsyndromic Deafness 77 6
1421 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 5
1422 P RTN008 Retinitis Pigmentosa 79
1423 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65
1424 c HRD010 Hereditary Spastic Paraplegia 65
1425 P USH001 Usher Syndrome 63
1426 c DYS056 Dystonia 12 63
1427 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63
1428 c PRX045 Peroxisome Biogenesis Disorder 1b 61
1429 NTH001 Netherton Syndrome 60
1430 c CCK008 Cockayne Syndrome a 59
1431 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
1432 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57
1433 c PRX059 Peroxisome Biogenesis Disorder 1a 57
1434 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1435 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1436 c OST080 Osteogenesis Imperfecta, Type Ii 55
1437 c ORF034 Orofaciodigital Syndrome Vi 55
1438 CHR629 Charcot-Marie-Tooth Disease and Deafness 55
1439 c DYS119 Dystonia 9 54
1440 c WRD033 Waardenburg Syndrome, Type 2e 53
1441 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1442 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 52
1443 P RNL028 Renal Tubular Dysgenesis 51
1444 P DNT011 Dentinogenesis Imperfecta 51
1445 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 51
1446 c OST119 Osteogenesis Imperfecta, Type Vii 50
1447 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
1448 c USH037 Usher Syndrome, Type Iia 50
1449 JCB001 Jacobsen Syndrome 50
1450 P ORF001 Orofaciodigital Syndrome 50
1451 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
1452 c DFN097 Deafness, Autosomal Recessive 1a 49
1453 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 49
1454 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 49
1455 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 49
1456 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
1457 P ALP106 Alport Syndrome 1, X-Linked 48
1458 c OST132 Osteogenesis Imperfecta, Type Vi 46
1459 c WRD019 Waardenburg Syndrome, Type 4b 46
1460 c RTN162 Retinitis Pigmentosa 2 46
1461 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 45
1462 c RTN047 Retinitis Pigmentosa 18 45
1463 c DFN250 Deafness, Autosomal Recessive 2 45
1464 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 45
1465 c RTN172 Retinitis Pigmentosa 1 45
1466 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 45
1467 c RTN150 Retinitis Pigmentosa 10 44
1468 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
1469 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 44
1470 c DFN036 Deafness, X-Linked 2 44
1471 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
1472 c RTN069 Retinitis Pigmentosa 7 44
1473 DBT090 Diabetes and Deafness, Maternally Inherited 44
1474 c MNT242 Mental Retardation, Autosomal Dominant 40 44
1475 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 44
1476 c USH039 Usher Syndrome, Type Ic 44
1477 c RTN141 Retinitis Pigmentosa 39 44
1478 P MNT185 Mental Retardation, Autosomal Dominant 7 44
1479 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
1480 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 43
1481 c RTN054 Retinitis Pigmentosa 25 43
1482 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 43
1483 c USH044 Usher Syndrome, Type Iiib 43
1484 c RTN043 Retinitis Pigmentosa 13 43
1485 c OST118 Osteogenesis Imperfecta, Type Viii 43
1486 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 43
1487 c RTN058 Retinitis Pigmentosa 3 43
1488 c RTN041 Retinitis Pigmentosa 11 43
1489 c WLF009 Wolfram Syndrome 2 43
1490 c OST124 Osteogenesis Imperfecta, Type V 42
1491 c RTN042 Retinitis Pigmentosa 12 42
1492 c RTN143 Retinitis Pigmentosa 47 42
1493 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 42
1494 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1495 c MNT319 Mental Retardation, Autosomal Dominant 20 42
1496 c RTN066 Retinitis Pigmentosa 4 42
1497 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 42
1498 c MNT245 Mental Retardation, Autosomal Dominant 36 42
1499 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 42
1500 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1501 c RTN050 Retinitis Pigmentosa 20 41
1502 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1503 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 41
1504 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 41
1505 c RTN130 Retinitis Pigmentosa 46 40
1506 c RTN114 Retinitis Pigmentosa 58 40
1507 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
1508 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
1509 c DFN107 Deafness, Autosomal Dominant 10 40
1510 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
1511 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 40
1512 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
1513 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 39
1514 c RTN062 Retinitis Pigmentosa 33 39
1515 c RTN048 Retinitis Pigmentosa 19 39
1516 c RTN142 Retinitis Pigmentosa 38 39
1517 c MNT240 Mental Retardation, Autosomal Dominant 33 39
1518 c RTN055 Retinitis Pigmentosa 26 39
1519 c RTN056 Retinitis Pigmentosa 28 39
1520 c DFN127 Deafness, Autosomal Recessive 7 39
1521 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
1522 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 39
1523 c RTN090 Retinitis Pigmentosa 55 39
1524 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 38
1525 c OST133 Osteogenesis Imperfecta, Type Xi 38
1526 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
1527 c DFN130 Deafness, Autosomal Recessive 21 38
1528 c MNT262 Mental Retardation, Autosomal Dominant 42 38
1529 c RTN129 Retinitis Pigmentosa 49 38
1530 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 38
1531 c RTN085 Retinitis Pigmentosa 54 38
1532 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
1533 c RTN176 Retinitis Pigmentosa 71 38
1534 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 38
1535 c RTN052 Retinitis Pigmentosa 23 37
1536 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1537 c RTN044 Retinitis Pigmentosa 14 37
1538 c SPS092 Spastic Paraplegia 11 37
1539 c RTN046 Retinitis Pigmentosa 17 37
1540 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 37
1541 c RTN177 Retinitis Pigmentosa 73 37
1542 c PRX063 Peroxisome Biogenesis Disorder 2a 37
1543 c RTN060 Retinitis Pigmentosa 31 37
1544 c RTN210 Retinitis Pigmentosa 50 37
1545 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
1546 c RTN159 Retinitis Pigmentosa 45 36
1547 c ATS494 Autosomal Recessive Distal Renal Tubular Acidosis 36
1548 c MNT212 Mental Retardation, Autosomal Dominant 26 36
1549 c RTN106 Retinitis Pigmentosa 51 36
1550 c MNT222 Mental Retardation, Autosomal Dominant 29 36
1551 c RTN146 Retinitis Pigmentosa 62 36
1552 c MNT179 Mental Retardation, Autosomal Dominant 21 36
1553 c OST123 Osteogenesis Imperfecta, Type Xiii 36
1554 c PRX055 Peroxisome Biogenesis Disorder 11a 36
1555 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 36
1556 c RTN157 Retinitis Pigmentosa 37 35
1557 c DFN262 Deafness, Autosomal Recessive 15 35
1558 c MNT211 Mental Retardation, Autosomal Dominant 23 35
1559 c OST130 Osteogenesis Imperfecta, Type Ix 35
1560 c RTN064 Retinitis Pigmentosa 35 35
1561 c MNT332 Mental Retardation, Autosomal Dominant 56 35
1562 c DFN114 Deafness, Autosomal Recessive 67 35
1563 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1564 c DFN124 Deafness, Autosomal Recessive 6 35
1565 c DNT047 Dentinogenesis Imperfecta Type 2 35
1566 c MNT143 Mental Retardation, Autosomal Dominant 13 35
1567 c RTN171 Retinitis Pigmentosa 59 35
1568 c MNT226 Mental Retardation, Autosomal Dominant 31 35
1569 c TWN011 Townes-Brocks Syndrome 1 34
1570 c RTN180 Retinitis Pigmentosa 74 34
1571 c PRX051 Peroxisome Biogenesis Disorder 6a 34
1572 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
1573 c PRX050 Peroxisome Biogenesis Disorder 9b 34
1574 c OST127 Osteogenesis Imperfecta, Type X 34
1575 c RTN152 Retinitis Pigmentosa 66 34
1576 c RTN059 Retinitis Pigmentosa 30 33
1577 c RTN134 Retinitis Pigmentosa 40 33
1578 c OST170 Osteogenesis Imperfecta, Type Xix 33
1579 c DFN258 Deafness, Autosomal Recessive 48 33
1580 c DNT025 Dentinogenesis Imperfecta 1 33
1581 c PRX060 Peroxisome Biogenesis Disorder 5a 33
1582 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 33
1583 c RTN131 Retinitis Pigmentosa 27 33
1584 c OST109 Osteogenesis Imperfecta, Type Xiv 33
1585 c RTN136 Retinitis Pigmentosa 44 33
1586 c PRX057 Peroxisome Biogenesis Disorder 4a 33
1587 c OST176 Osteogenesis Imperfecta, Type Xx 33
1588 c RTN070 Retinitis Pigmentosa 9 33
1589 P SPS012 Spastic Paraplegia 3a 33
1590 c RTN057 Retinitis Pigmentosa 29 33
1591 c PRX054 Peroxisome Biogenesis Disorder 12a 33
1592 c RTN144 Retinitis Pigmentosa 61 32
1593 c SPS036 Spastic Paraplegia 3 32
1594 CHR696 Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia 32
1595 c MNT219 Mental Retardation, Autosomal Dominant 30 32
1596 c RTN186 Retinitis Pigmentosa 75 32
1597 c PRX065 Peroxisome Biogenesis Disorder 3a 32
1598 c RTN140 Retinitis Pigmentosa 67 32
1599 c HRD220 Hereditary Spastic Paraplegia 30 32
1600 c OST138 Osteogenesis Imperfecta, Type Xvii 32
1601 c OST169 Osteogenesis Imperfecta, Type Xviii 32
1602 c MNT186 Mental Retardation, Autosomal Dominant 10 32
1603 c MNT158 Mental Retardation, Autosomal Dominant 22 32
1604 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 32
1605 c RTN169 Retinitis Pigmentosa 70 32
1606 c RTN061 Retinitis Pigmentosa 32 32
1607 c MNT239 Mental Retardation, Autosomal Dominant 35 31
1608 c PRX043 Peroxisome Biogenesis Disorder 6b 31
1609 c MNT246 Mental Retardation, Autosomal Dominant 38 31
1610 MTC026 Mitochondrial Myopathy with Lactic Acidosis 31
1611 c HRD186 Hereditary Spastic Paraplegia 51 31
1612 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 31
1613 c RTN160 Retinitis Pigmentosa 60 31
1614 c SPS013 Spastic Paraplegia 8 31
1615 c SPS039 Spastic Paraplegia 5a 31
1616 c RTN178 Retinitis Pigmentosa 72 31
1617 c PRX048 Peroxisome Biogenesis Disorder 10a 31
1618 c RTN067 Retinitis Pigmentosa 41 31
1619 c PRX046 Peroxisome Biogenesis Disorder 7a 30
1620 c SPS025 Spastic Paraplegia 15 30
1621 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1622 c MNT270 Mental Retardation, Autosomal Recessive 53 30
1623 c RTN065 Retinitis Pigmentosa 36 30
1624 c RTN190 Retinitis Pigmentosa 76 30
1625 c OST139 Osteogenesis Imperfecta, Type Xvi 30
1626 c MNT145 Mental Retardation, Autosomal Recessive 5 30
1627 c RTN165 Retinitis Pigmentosa 68 30
1628 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1629 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 30
1630 c RTN147 Retinitis Pigmentosa 48 30
1631 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1632 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
1633 c RTN148 Retinitis Pigmentosa 63 29
1634 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1635 c PRX058 Peroxisome Biogenesis Disorder 4b 29
1636 c RTN149 Retinitis Pigmentosa 42 29
1637 c MNT183 Mental Retardation, Autosomal Recessive 36 29
1638 c RTN133 Retinitis Pigmentosa 43 29
1639 c HRD198 Hereditary Dystonia 29
1640 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
1641 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
1642 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 28
1643 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 28
1644 c SPS091 Spastic Paraplegia 4 28
1645 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
1646 c PRX052 Peroxisome Biogenesis Disorder 13a 28
1647 c PRX091 Peroxisome Biogenesis Disorder 8a 28
1648 P PRX064 Peroxisome Biogenesis Disorder 2b 28
1649 c RTN053 Retinitis Pigmentosa 24 28
1650 c PRX062 Peroxisome Biogenesis Disorder 8b 28
1651 c SPS021 Spastic Paraplegia 10 28
1652 c RTN117 Retinitis Pigmentosa 57 28
1653 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 28
1654 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
1655 c HRD188 Hereditary Spastic Paraplegia 72 28
1656 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1657 c MNT210 Mental Retardation, Autosomal Recessive 42 28
1658 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28
1659 c MNT166 Mental Retardation, Autosomal Recessive 39 28
1660 c RTN213 Retinitis Pigmentosa 80 28
1661 c PRX066 Peroxisome Biogenesis Disorder 3b 28
1662 PTT047 Pituitary Hormone Deficiency, Combined, 3 28
1663 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27
1664 c PRX047 Peroxisome Biogenesis Disorder 5b 27
1665 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27
1666 c MNT216 Mental Retardation, Autosomal Recessive 41 27
1667 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 27
1668 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1669 c RTN068 Retinitis Pigmentosa 6 27
1670 c MNT279 Mental Retardation, Autosomal Dominant 47 27
1671 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
1672 c MNT213 Mental Retardation, Autosomal Recessive 40 27
1673 c MNT280 Mental Retardation, Autosomal Dominant 43 27
1674 c MNT323 Mental Retardation, Autosomal Dominant 48 26
1675 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
1676 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
1677 c MNT334 Mental Retardation, Autosomal Dominant 57 26
1678 c SPS041 Spastic Paraplegia 6 26
1679 c MNT321 Mental Retardation, Autosomal Recessive 37 26
1680 c MNT176 Mental Retardation, Autosomal Recessive 38 26
1681 c PRX068 Peroxisome Biogenesis Disorder 7b 26
1682 c PRX056 Peroxisome Biogenesis Disorder 11b 26
1683 c MNT155 Mental Retardation, Autosomal Recessive 2 26
1684 c MNT234 Mental Retardation, Autosomal Recessive 48 26
1685 c RTN166 Retinitis Pigmentosa 69 25
1686 c MNT236 Mental Retardation, Autosomal Dominant 39 25
1687 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 25
1688 c RTN116 Retinitis Pigmentosa 56 25
1689 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1690 c SPS027 Spastic Paraplegia 17 25
1691 c NNS043 Nonsyndromic Retinitis Pigmentosa 25
1692 c MNT328 Mental Retardation, Autosomal Dominant 52 25
1693 c DFN263 Deafness, Autosomal Recessive 68 25
1694 c MNT184 Mental Retardation, Autosomal Dominant 11 25
1695 MDD007 Middle Ear Squamous Cell Carcinoma 25
1696 c RTN063 Retinitis Pigmentosa 34 25
1697 c MNT325 Mental Retardation, Autosomal Recessive 61 24
1698 STN006 Steinfeld Syndrome 24
1699 c MNT329 Mental Retardation, Autosomal Dominant 53 24
1700 c MNT272 Mental Retardation, Autosomal Dominant 41 24
1701 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24
1702 P OCL062 Ocular Albinism with Congenital Sensorineural Deafness 24
1703 c MNT287 Mental Retardation, Autosomal Recessive 57 24
1704 c RTN230 Retinitis Pigmentosa 88 24
1705 c MNT286 Mental Retardation, Autosomal Dominant 45 24
1706 c MNT337 Mental Retardation, Autosomal Dominant 58 24
1707 c MNT177 Mental Retardation, Autosomal Recessive 27 24
1708 c RTN234 Retinitis Pigmentosa 90 24
1709 c HRD210 Hereditary Spastic Paraplegia 23 24
1710 ADT008 Auditory Neuropathy and Optic Atrophy 24
1711 c MNT227 Mental Retardation, Autosomal Recessive 46 24
1712 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
1713 c MNT338 Mental Retardation, Autosomal Recessive 65 23
1714 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1715 c RTN051 Retinitis Pigmentosa 22 23
1716 c MNT238 Mental Retardation, Autosomal Dominant 34 23
1717 c OST178 Osteogenesis Imperfecta, Type Xxi 23
1718 c ORF051 Orofaciodigital Syndrome Xvii 23
1719 c MNT339 Mental Retardation, Autosomal Recessive 66 23
1720 c MNT285 Mental Retardation, Autosomal Recessive 58 23
1721 c STC012 Stickler Syndrome, Type Iv 23
1722 c MNT330 Mental Retardation, Autosomal Dominant 54 23
1723 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1724 c MNT278 Mental Retardation, Autosomal Dominant 46 22
1725 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 22
1726 c MNT327 Mental Retardation, Autosomal Dominant 51 22
1727 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1728 c MNT225 Mental Retardation, Autosomal Recessive 47 22
1729 c SPS038 Spastic Paraplegia 39 22
1730 c RTN192 Retinitis Pigmentosa 77 22
1731 c SPS042 Spastic Paraplegia 9 22
1732 c RTN227 Retinitis Pigmentosa 86 22
1733 c MNT151 Mental Retardation, Autosomal Recessive 18 22
1734 c RTN195 Retinitis Pigmentosa 79 21
1735 c MNT154 Mental Retardation, Autosomal Recessive 14 21
1736 c RTN196 Retinitis Pigmentosa 78 21
1737 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1738 c SPS023 Spastic Paraplegia 13 21
1739 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1740 c RTN233 Retinitis Pigmentosa 89 21
1741 c MNT336 Mental Retardation, Autosomal Recessive 64 21
1742 c ATS493 Autosomal Dominant Distal Renal Tubular Acidosis 21
1743 c RTN217 Retinitis Pigmentosa 83 21
1744 c DFN379 Deafness, Autosomal Dominant 37 21
1745 c MNT215 Mental Retardation, Autosomal Recessive 43 21
1746 c MNT263 Mental Retardation, Autosomal Recessive 51 20
1747 c RTN214 Retinitis Pigmentosa 81 20
1748 c RTN218 Retinitis Pigmentosa 84 20
1749 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1750 c MNT277 Mental Retardation, Autosomal Recessive 54 19
1751 c MNT181 Mental Retardation, Autosomal Recessive 35 19
1752 c MNT264 Mental Retardation, Autosomal Recessive 52 19
1753 c MNT281 Mental Retardation, Autosomal Recessive 59 19
1754 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 19
1755 c SPS022 Spastic Paraplegia 12 18
1756 c RTN219 Retinitis Pigmentosa 85 18
1757 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1758 c MNT335 Mental Retardation, Autosomal Recessive 63 18
1759 c MNT284 Mental Retardation, Autosomal Recessive 56 18
1760 c SPS028 Spastic Paraplegia 18 17
1761 c SPS034 Spastic Paraplegia 26 17
1762 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 17
1763 c MNT172 Mental Retardation, Autosomal Recessive 25 16
1764 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1765 c DFN372 Deafness, Y-Linked 2 16
1766 c MNT180 Mental Retardation, Autosomal Recessive 33 15
1767 c MNT162 Mental Retardation, Autosomal Recessive 24 15
1768 c SPS032 Spastic Paraplegia 24 15
1769 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
1770 c MNT163 Mental Retardation, Autosomal Recessive 30 15
1771 c MNT161 Mental Retardation, Autosomal Recessive 29 15
1772 c MNT167 Mental Retardation, Autosomal Recessive 16 15
1773 c MNT165 Mental Retardation, Autosomal Recessive 28 15
1774 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1775 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1776 c MNT182 Mental Retardation, Autosomal Recessive 19 14
1777 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
1778 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1779 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 14
1780 c MNT170 Mental Retardation, Autosomal Recessive 23 14
1781 P FRS017 Fraser-Like Syndrome 14
1782 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1783 c SPS029 Spastic Paraplegia 19 14
1784 c SPS035 Spastic Paraplegia 29 13
1785 c MNT160 Mental Retardation, Autosomal Recessive 31 13
1786 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1787 c SPS024 Spastic Paraplegia 14 12
1788 c SPS165 Spastic Paraplegia 47 12
1789 c SPS161 Spastic Paraplegia 32 12
1790 c SPS026 Spastic Paraplegia 16 11
1791 c SPS033 Spastic Paraplegia 25 11
1792 c SPS230 Spastic Paraplegia Type 49 10
1793 c ATS423 Autosomal Dominant Wolfram Syndrome 10
1794 EXT016 External Ear Squamous Cell Carcinoma 8
1795 c SPS040 Spastic Paraplegia 5b 7
1796 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1797 c ATS394 Autosomal Dominant Mental Retardation 55 6
1798 c RRD009 Rare Disease with Dentinogenesis Imperfecta 4
1799 P ATX030 Ataxia-Telangiectasia 80
1800 P OST001 Osteopetrosis 70
1801 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62
1802 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58
1803 PND002 Pendred Syndrome 57
1804 P JRV004 Jervell and Lange-Nielsen Syndrome 1 56
1805 c OST163 Osteopetrosis, Autosomal Recessive 3 54
1806 c WRD030 Waardenburg Syndrome, Type 1 54
1807 c OST131 Osteopetrosis, Autosomal Dominant 2 52
1808 P BRN006 Branchiootorenal Syndrome 51
1809 c OST126 Osteopetrosis, Autosomal Recessive 1 51
1810 c USH038 Usher Syndrome, Type Iiia 51
1811 P FRN012 Frontometaphyseal Dysplasia 51
1812 c OST136 Osteopetrosis, Autosomal Recessive 7 50
1813 c OST120 Osteopetrosis, Autosomal Recessive 5 50
1814 c VNM003 Van Maldergem Syndrome 1 50
1815 c STC015 Stickler Syndrome, Type I 50
1816 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 50
1817 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49
1818 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 48
1819 P DST107 Distal Renal Tubular Acidosis 48
1820 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 48
1821 c CNG208 Congenital Disorder of Glycosylation, Type Iic 47
1822 c ATS282 Autosomal Recessive Malignant Osteopetrosis 45
1823 c OST137 Osteopetrosis, Autosomal Recessive 4 45
1824 c OST134 Osteopetrosis, Autosomal Recessive 6 45
1825 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 44
1826 c OST129 Osteopetrosis, Autosomal Recessive 2 44
1827 c ORF033 Orofaciodigital Syndrome V 43
1828 c ATS018 Autosomal Recessive Alport Syndrome 43
1829 c ALP104 Alport Syndrome 3, Autosomal Dominant 42
1830 KRT058 Keratoderma, Palmoplantar, with Deafness 42
1831 c OST106 Osteopetrosis, Autosomal Recessive 8 42
1832 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 40
1833 MND025 Mandibulofacial Dysostosis with Alopecia 40
1834 c ATS015 Autosomal Dominant Alport Syndrome 39
1835 c VNM002 Van Maldergem Syndrome 2 35
1836 c FRN048 Frontometaphyseal Dysplasia 2 35
1837 c OST125 Osteopetrosis, Autosomal Dominant 1 34
1838 c CRB099 Cerebrooculofacioskeletal Syndrome 3 33
1839 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 33
1840 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 32
1841 c DYS162 Dystonia, Juvenile-Onset 31
1842 RCH002 Richards-Rundle Syndrome 31
1843 P VNM004 Van Maldergem Syndrome 29
1844 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 29
1845 CHR506 Choroideremia, Deafness, and Mental Retardation 27
1846 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
1847 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1848 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 20
1849 c ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 20
1850 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
1851 c CLC009 Clcn7-Related Osteopetrosis 15
1852 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
1853 c ORF005 Orofaciodigital Syndrome 12 13
1854 P CHR071 Charcot-Marie-Tooth Disease 64
1855 c OTP006 Otopalatodigital Syndrome, Type I 59
1856 c ORF037 Orofaciodigital Syndrome I 59
1857 c OST122 Osteogenesis Imperfecta, Type Iii 57
1858 c ORF035 Orofaciodigital Syndrome Iv 50
1859 c ORF040 Orofaciodigital Syndrome Viii 49
1860 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 49
1861 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 49
1862 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
1863 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 49
1864 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 49
1865 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 49
1866 c WRD032 Waardenburg Syndrome, Type 2a 48
1867 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 48
1868 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
1869 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 46
1870 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 46
1871 P PRR025 Perrault Syndrome 44
1872 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 43
1873 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 43
1874 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
1875 LYM094 Lymphedema, Primary, with Myelodysplasia 40
1876 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 38
1877 BRB006 Barber-Say Syndrome 37
1878 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 37
1879 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
1880 c ORF038 Orofaciodigital Syndrome Iii 36
1881 c ORF043 Orofaciodigital Syndrome Ix 35
1882 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 34
1883 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 33
1884 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 33
1885 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1886 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32
1887 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1888 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 31
1889 c HML046 Heimler Syndrome 2 31
1890 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 30
1891 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 29
1892 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 28
1893 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 28
1894 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
1895 c CHR026 Charcot-Marie-Tooth Disease Type X 27
1896 c WRD026 Waardenburg Syndrome, Type 2c 26
1897 c ORF042 Orofaciodigital Syndrome Xi 25
1898 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 25
1899 c ORF046 Orofaciodigital Syndrome Xvi 25
1900 c ORF052 Orofaciodigital Syndrome Xviii 24
1901 OCL073 Oculoskeletodental Syndrome 24
1902 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 23
1903 c CHR135 Charcot-Marie-Tooth Disease Type 2a 23
1904 c CHR571 Charcot-Marie-Tooth Disease Type 5 23
1905 c CHR549 Charcot-Marie-Tooth Disease Type 2l 22
1906 c ORF045 Orofaciodigital Syndrome Xv 22
1907 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 21
1908 c ORF039 Orofaciodigital Syndrome Vii 21
1909 DNR006 Duane Retraction Syndrome 3 with or Without Deafness 19
1910 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
1911 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 18
1912 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17
1913 c CHR701 Charcot-Marie-Tooth Disease Type 1g 16
1914 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 16
1915 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1916 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 8
1917 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
1918 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
1919 c CHR572 Charcot-Marie-Tooth Disease Type 7 6
1920 P NNN008 Noonan Syndrome 1 76
1921 c NNN010 Noonan Syndrome 3 51
1922 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
1923 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
1924 c CNG196 Congenital Disorder of Glycosylation, Type Ic 40
1925 c NNN009 Noonan Syndrome 2 39
1926 c CNG388 Congenital Disorder of Glycosylation, Type Iw 30
1927 c WRD029 Waardenburg Syndrome, Type 2b 28
1928 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1929 c NNN036 Noonan Syndrome 13 24
1930 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1931 c CNG411 Congenital Disorder of Glycosylation, Type in 66
1932 P NRF002 Neurofibromatosis 60
1933 c CNG415 Congenital Disorder of Glycosylation, Type Ia 58
1934 c CNG194 Congenital Disorder of Glycosylation, Type Ig 49
1935 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
1936 c CNG205 Congenital Disorder of Glycosylation, Type Ij 36
1937 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 34
1938 c NNN025 Noonan Syndrome 10 32
1939 TMT002 Temtamy Preaxial Brachydactyly Syndrome 54
1940 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
1941 c CNG193 Congenital Disorder of Glycosylation, Type Ip 46
1942 c CNG204 Congenital Disorder of Glycosylation, Type Iih 45
1943 c CNG379 Congenital Disorder of Glycosylation, Type It 41
1944 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
1945 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
1946 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
1947 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35



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