Ear Diseases Category (1373 diseases)


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

# Family MCID Name MIFTS
1 KRT058 Keratoderma, Palmoplantar, with Deafness 29
2 c DFN036 Deafness, X-Linked 2 38
3 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 26
4 DFN306 Deafness, Conductive, with Malformed External Ear 18
5 c DFN352 Deafness, Autosomal Recessive 8 34
6 c DFN351 Deafness, Autosomal Dominant 6 41
7 c DFN262 Deafness, Autosomal Recessive 15 29
8 SCL046 Scalp-Ear-Nipple Syndrome 35
9 DFN256 Deafness and Myopia 25
10 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 60
11 c DFN097 Deafness, Autosomal Recessive 1a 43
12 CRN045 Corneal Dystrophy and Perceptive Deafness 27
13 c DFN253 Deafness, Autosomal Recessive 84a 24
14 c DFN196 Deafness, Autosomal Dominant 22 41
15 c DFN353 Deafness, Autosomal Dominant 12 38
16 c DFN127 Deafness, Autosomal Recessive 7 30
17 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 17
18 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 50
19 c DFN250 Deafness, Autosomal Recessive 2 42
20 c DFN124 Deafness, Autosomal Recessive 6 37
21 c DFN103 Deafness, Autosomal Recessive 1b 26
22 c DFN267 Deafness, Autosomal Dominant 4a 24
23 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 36
24 P TWN003 Townes-Brocks Syndrome 54
25 CHL122 Cholesteatoma of Middle Ear 52
26 c DFN141 Deafness, Autosomal Recessive 12 44
27 c DFN354 Deafness, Autosomal Dominant 20 42
28 c DFN133 Deafness, Autosomal Recessive 9 36
29 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 35
30 c DFN247 Deafness, Autosomal Recessive 18a 24
31 c TWN010 Townes-Brocks Syndrome 2 22
32 DFN039 Deafness-Infertility Syndrome 34
33 DFN356 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 19
34 CTR007 Cataract Ataxia Deafness 8
35 c DFN202 Deafness, Autosomal Dominant 48 41
36 c DFN197 Deafness, Autosomal Recessive 37 40
37 c DFN120 Deafness, Autosomal Recessive 39 37
38 c DFN131 Deafness, Autosomal Dominant 1 37
39 CRN048 Craniofacial-Deafness-Hand Syndrome 29
40 c DFN244 Deafness, Autosomal Recessive 42 28
41 CRD221 Cardiospondylocarpofacial Syndrome 38
42 c DFN201 Deafness, Autosomal Recessive 3 37
43 c DFN147 Deafness, X-Linked 4 22
44 MCR306 Microcephaly-Deafness Syndrome 20
45 DFN350 Deafness, Aminoglycoside-Induced 31
46 c DFN258 Deafness, Autosomal Recessive 48 30
47 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 57
48 c DFN107 Deafness, Autosomal Dominant 10 44
49 c DFN092 Deafness, Autosomal Recessive 49 39
50 c DFN130 Deafness, Autosomal Recessive 21 38
51 c DFN093 Deafness, Autosomal Recessive 23 37
52 c DFN137 Deafness, Autosomal Dominant 13 36
53 c DFN094 Deafness, Autosomal Dominant 28 35
54 c DFN128 Deafness, Autosomal Dominant 36 34
55 c DFN190 Deafness, Autosomal Dominant 2a 34
56 c DFN189 Deafness, Autosomal Dominant 25 34
57 c DFN121 Deafness, Autosomal Recessive 28 33
58 c DFN098 Deafness, Autosomal Dominant 3a 32
59 c DFN139 Deafness, Autosomal Recessive 29 32
60 c DFN360 Deafness, Autosomal Dominant 69 30
61 c DFN159 Deafness, Autosomal Dominant 5 30
62 c DFN143 Deafness, Autosomal Recessive 16 29
63 c DFN112 Deafness, Autosomal Recessive 63 28
64 c DFN170 Deafness, Autosomal Recessive 31 27
65 c DFN138 Deafness, Autosomal Recessive 53 25
66 c DFN132 Deafness, Autosomal Recessive 22 22
67 c DFN188 Deafness, Autosomal Recessive 61 22
68 c DFN255 Deafness, Autosomal Dominant 64 21
69 c DFN102 Deafness, Autosomal Dominant 3b 19
70 DFN021 Deafness with Labyrinthine Aplasia Microtia and Microdontia 13
71 DFN308 Deafness, Progressive, with Stapes Fixation 16
72 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
73 c DFN251 Deafness, Autosomal Dominant 11 40
74 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
75 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 39
76 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
77 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 29
78 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
79 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 26
80 MCR337 Microtia with Meatal Atresia and Conductive Deafness 16
81 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 12
82 ART057 Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness 11
83 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 39
84 c DFN249 Deafness, Autosomal Recessive 93 34
85 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 17
86 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 16
87 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 13
88 c DFN200 Deafness, Autosomal Dominant 17 43
89 CHD004 Chudley-Mccullough Syndrome 36
90 c DFN123 Deafness, Autosomal Recessive 79 32
91 P ALB003 Albinism-Deafness Syndrome 28
92 c DFN108 Deafness, Autosomal Recessive 77 28
93 ICH035 Ichthyosis, Hystrix-Like, with Deafness 21
94 c DFN135 Deafness, Autosomal Recessive 91 19
95 MCK007 Muckle-Wells Syndrome 63
96 c DFN269 Deafness, Autosomal Recessive 98 31
97 c DFN266 Deafness, Autosomal Dominant 4b 24
98 c DFN194 Deafness, X-Linked 1 21
99 c DFN278 Deafness, Autosomal Dominant 65 20
100 c DFN274 Deafness, Autosomal Dominant 56 19
101 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 19
102 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 17
103 CDL001 Caudal Appendage Deafness 14
104 DF1001 Deaf1-Associated Disorders 11
105 MRL003 Morel's Ear 4
106 TTZ003 Tietz Albinism-Deafness Syndrome 45
107 RTN187 Retinitis Pigmentosa-Deafness Syndrome 45
108 c DFN117 Deafness, Autosomal Dominant 15 41
109 c DFN252 Deafness, Autosomal Recessive 24 35
110 c DFN330 Deafness, Autosomal Recessive 97 35
111 c DFN114 Deafness, Autosomal Recessive 67 33
112 c DFN095 Deafness, Autosomal Recessive 25 33
113 c DFN116 Deafness, Autosomal Recessive 74 29
114 c DFN181 Deafness, Autosomal Recessive 66 28
115 c DFN105 Deafness, X-Linked 5 26
116 c DFN284 Deafness, Autosomal Dominant 67 26
117 c DFN155 Deafness, Autosomal Dominant 41 25
118 c DFN263 Deafness, Autosomal Recessive 68 25
119 c DFN265 Deafness, Autosomal Recessive 76 20
120 c DFN283 Deafness, Autosomal Recessive 104 19
121 c DFN134 Deafness, Autosomal Dominant 40 19
122 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 6
123 c NNS007 Nonsyndromic Deafness 42
124 c DFN203 Deafness, Autosomal Recessive 30 41
125 c DFN136 Deafness, Autosomal Dominant 9 39
126 c DFN192 Deafness, Autosomal Dominant 23 35
127 c DFN260 Deafness, Autosomal Recessive 89 32
128 c DFN118 Deafness, Autosomal Dominant 44 30
129 c DFN111 Deafness, Autosomal Recessive 35 29
130 c DFN178 Deafness, Autosomal Recessive 59 29
131 c DFN248 Deafness, Autosomal Recessive 18b 26
132 c DFN243 Deafness, Autosomal Recessive 88 22
133 c DFN281 Deafness, Autosomal Recessive 103 21
134 c DFN099 Deafness, Autosomal Dominant 2b 21
135 c DFN254 Deafness, Autosomal Recessive 84b 21
136 c DFN174 Deafness, Autosomal Recessive 44 20
137 c DFN273 Deafness, Autosomal Recessive 101 20
138 c DFN277 Deafness, Autosomal Recessive 102 20
139 c DFN242 Deafness, Autosomal Recessive 70 19
140 P SNS001 Sensorineural Hearing Loss 60
141 P MRG008 Meier-Gorlin Syndrome 1 52
142 P PRR025 Perrault Syndrome 34
143 P ALB023 Albinism, Ocular, with Sensorineural Deafness 30
144 c DFN160 Deafness, Autosomal Dominant 52 29
145 c MRG010 Meier-Gorlin Syndrome 3 26
146 c PRR026 Perrault Syndrome 5 26
147 c MRG015 Meier-Gorlin Syndrome 7 26
148 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 25
149 c DFN177 Deafness, Autosomal Recessive 5 23
150 c MRG011 Meier-Gorlin Syndrome 4 23
151 c MRG009 Meier-Gorlin Syndrome 2 23
152 c MRG014 Meier-Gorlin Syndrome 6 23
153 c PRR021 Perrault Syndrome 4 22
154 c MRG012 Meier-Gorlin Syndrome 5 22
155 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 20
156 c DFN329 Deafness, Autosomal Dominant 66 20
157 c DFN327 Deafness, Autosomal Dominant 70 19
158 c MRG016 Meier-Gorlin Syndrome 8 18
159 c PRR033 Perrault Syndrome 6 18
160 BCH001 Beach Ear 14
161 RTN215 Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 12
162 c NNS013 Nonsyndromic Hereditary Sensorineural Hearing Loss 3
163 c SPN294 Spinocerebellar Ataxia 1 59
164 P SPN301 Spinocerebellar Ataxia 2 59
165 c SPN291 Spinocerebellar Ataxia 7 53
166 P JRV004 Jervell and Lange-Nielsen Syndrome 1 51
167 c SPN314 Spinocerebellar Ataxia 10 51
168 c SPN293 Spinocerebellar Ataxia 12 51
169 c SPN309 Spinocerebellar Ataxia 6 49
170 c SPN296 Spinocerebellar Ataxia 17 48
171 c SPN312 Spinocerebellar Ataxia 14 48
172 c SPN100 Spinocerebellar Ataxia 27 46
173 c SPN311 Spinocerebellar Ataxia 13 46
174 c SPN097 Spinocerebellar Ataxia 23 45
175 c SPN103 Spinocerebellar Ataxia 31 44
176 c SPN308 Spinocerebellar Ataxia 28 44
177 c SPN290 Spinocerebellar Ataxia 15 43
178 c SPN305 Spinocerebellar Ataxia 11 42
179 c SPN265 Spinocerebellar Ataxia 36 42
180 c SPN283 Spinocerebellar Ataxia 37 41
181 c SPN304 Spinocerebellar Ataxia 8 41
182 c SPN106 Spinocerebellar Ataxia 5 41
183 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 39
184 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
185 c DFN168 Deafness, Autosomal Recessive 26 38
186 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 37
187 c SPN094 Spinocerebellar Ataxia 18 37
188 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
189 c SPN101 Spinocerebellar Ataxia 29 35
190 c SPN299 Spinocerebellar Ataxia 20 35
191 c SPN095 Spinocerebellar Ataxia 19 35
192 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
193 c SPN247 Spinocerebellar Ataxia Type 19/22 34
194 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
195 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 34
196 c SPN266 Spinocerebellar Ataxia 35 34
197 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
198 c SPN096 Spinocerebellar Ataxia 21 33
199 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
200 c SPN105 Spinocerebellar Ataxia 4 33
201 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
202 c SPN099 Spinocerebellar Ataxia 26 33
203 c SPN383 Spinocerebellar Ataxia 42 32
204 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
205 c SPN104 Spinocerebellar Ataxia 34 31
206 c SPN284 Spinocerebellar Ataxia 38 31
207 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
208 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 30
209 c SPN098 Spinocerebellar Ataxia 25 30
210 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
211 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
212 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
213 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
214 c SPN286 Spinocerebellar Ataxia 40 28
215 c SPN372 Spinocerebellar Ataxia 43 27
216 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
217 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
218 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
219 c SPN418 Spinocerebellar Ataxia 44 25
220 c SPN420 Spinocerebellar Ataxia 46 25
221 c SPN421 Spinocerebellar Ataxia 47 25
222 c SPN102 Spinocerebellar Ataxia 30 24
223 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
224 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 24
225 c SPN323 Spinocerebellar Ataxia 41 24
226 c SPN427 Spinocerebellar Ataxia 48 24
227 c SPN259 Spinocerebellar Ataxia 32 23
228 c SPN419 Spinocerebellar Ataxia 45 22
229 c SPN107 Spinocerebellar Ataxia 9 22
230 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 20
231 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 20
232 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 20
233 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
234 MYC074 Myoclonus, Cerebellar Ataxia, and Deafness 18
235 c DFN336 Deafness, Autosomal Dominant 68 18
236 DFN014 Deafness Nephritis Anorectal Malformation 13
237 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
238 THC001 Thickened Earlobes with Conductive Deafness from Incus-Stapes Abnormalities 4
239 DNN002 Donnai-Barrow Syndrome 55
240 ARC008 Auriculo-Condylar Syndrome 40
241 c DFN119 Deafness, Autosomal Dominant 50 29
242 c PRR020 Perrault Syndrome 1 27
243 DNR006 Duane Retraction Syndrome 3 with or Without Deafness 18
244 CHR103 Charge Syndrome 61
245 KDS001 Kid Syndrome 43
246 BJR001 Bjornstad Syndrome 36
247 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 34
248 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
249 c DFN246 Deafness, Autosomal Dominant 51 28
250 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
251 c DFN357 Deafness, Autosomal Recessive 47 26
252 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
253 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 17
254 DFN355 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 16
255 DFN363 Deafness, Autosomal Recessive 26, Modifier of 13
256 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 48
257 RCH002 Richards-Rundle Syndrome 29
258 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
259 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 29
260 FBR088 Fibromatosis, Gingival, with Progressive Deafness 24
261 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 20
262 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 17
263 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 17
264 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 16
265 MCR041 Macrothrombocytopenia Progressive Deafness 13
266 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
267 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 6
268 INS024 Insulin-Like Growth Factor I 82
269 P USH001 Usher Syndrome 58
270 c USH035 Usher Syndrome Type 2 46
271 c USH041 Usher Syndrome, Type if 37
272 c TWN011 Townes-Brocks Syndrome 1 34
273 c DFN240 Deafness, Autosomal Recessive 96 30
274 c USH030 Usher Syndrome, Type Ik 29
275 c USH044 Usher Syndrome, Type Iiib 26
276 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 26
277 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 25
278 c DFN276 Deafness, X-Linked 6 21
279 c DFN361 Deafness, Autosomal Recessive 106 20
280 QST001 Question Mark Ears, Isolated 20
281 c USH045 Usher Syndrome, Type Iv 20
282 c USH043 Usher Syndrome, Type Ih 20
283 c USH011 Usher Syndrome, Type 2b 13
284 P INN002 Inner Ear Disease 54
285 c ALP106 Alport Syndrome 1, X-Linked 53
286 c ATM021 Autoimmune Inner Ear Disease 40
287 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
288 c DFN148 Deafness, Autosomal Dominant 16 33
289 c DFN151 Deafness, Autosomal Dominant 24 33
290 c DFN184 Deafness, Autosomal Recessive 85 32
291 c DFN183 Deafness, Autosomal Recessive 83 31
292 c DFN029 Deafness, Autosomal Recessive 51 31
293 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
294 MDD008 Middle Ear Adenoma 30
295 c DFN171 Deafness, Autosomal Recessive 33 30
296 SYS006 Say Syndrome 29
297 c DFN150 Deafness, Autosomal Dominant 21 29
298 c DFN154 Deafness, Autosomal Dominant 31 28
299 MDD009 Middle Ear Carcinoma 27
300 RBF003 Riboflavin Transporter Deficiency 27
301 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
302 MDD007 Middle Ear Squamous Cell Carcinoma 26
303 c DFN163 Deafness, Autosomal Dominant 7 26
304 c DFN272 Deafness, Autosomal Dominant 54 25
305 c DFN166 Deafness, Autosomal Recessive 17 24
306 c DFN158 Deafness, Autosomal Dominant 49 24
307 c DFN164 Deafness, Autosomal Recessive 13 23
308 c DFN161 Deafness, Autosomal Dominant 53 23
309 c DFN259 Deafness, Autosomal Recessive 86 23
310 c DFN173 Deafness, Autosomal Recessive 40 23
311 c DFN156 Deafness, Autosomal Dominant 43 22
312 c SPN364 Spinocerebellar Ataxia, X-Linked 3 22
313 c DFN167 Deafness, Autosomal Recessive 20 22
314 c DFN261 Deafness, Autosomal Recessive 46 22
315 c DFN149 Deafness, Autosomal Dominant 18 22
316 c DFN180 Deafness, Autosomal Recessive 65 22
317 c DFN162 Deafness, Autosomal Dominant 59 21
318 c DFN271 Deafness, Autosomal Dominant 58 21
319 P XLN004 X-Linked Nonsyndromic Deafness 21
320 c DFN030 Deafness, Autosomal Recessive 55 21
321 c DFN169 Deafness, Autosomal Recessive 27 21
322 c DFN333 Deafness, Autosomal Dominant 73 20
323 c DFN257 Deafness, Autosomal Dominant 33 20
324 c DFN172 Deafness, Autosomal Recessive 38 20
325 c DFN153 Deafness, Autosomal Dominant 30 20
326 c DFN157 Deafness, Autosomal Dominant 47 20
327 c DFN165 Deafness, Autosomal Recessive 14 20
328 c DFN182 Deafness, Autosomal Recessive 71 20
329 c DFN175 Deafness, Autosomal Recessive 45 20
330 c DFN179 Deafness, Autosomal Recessive 62 20
331 c DFN152 Deafness, Autosomal Dominant 27 19
332 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
333 EXT023 External Ear Carcinoma 18
334 c SPN203 Spinocerebellar Ataxia, X-Linked 5 18
335 CRN075 Crandall Syndrome 17
336 c SPN403 Spinocerebellar Ataxia, X-Linked 2 14
337 OLV003 Olivopontocerebellar Atrophy Deafness 13
338 EXT016 External Ear Squamous Cell Carcinoma 10
339 DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 7
340 SHR016 Short Stature Deafness Neutrophil Dysfunction 5
341 c USH036 Usher Syndrome, Type I 59
342 c MCR256 Microphthalmia, Syndromic 9 52
343 P MCR241 Microphthalmia, Syndromic 3 42
344 c MCR263 Microphthalmia, Syndromic 1 40
345 c MCR261 Microphthalmia, Syndromic 2 40
346 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 34
347 c MCR251 Microphthalmia, Syndromic 6 33
348 DFN038 Dfnb1 29
349 c MCR252 Microphthalmia, Syndromic 5 28
350 c MCR245 Microphthalmia, Syndromic 8 27
351 c MCR312 Microphthalmia, Syndromic 10 26
352 c MCR212 Microphthalmia, Syndromic 12 26
353 c MCR228 Microphthalmia, Syndromic 13 24
354 c DFN364 Deafness, Autosomal Recessive 57 24
355 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 22
356 c MCR217 Microphthalmia, Syndromic 11 22
357 c MCR262 Microphthalmia, Syndromic 4 21
358 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 19
359 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 18
360 c DFN146 Deafness, X-Linked 3 17
361 DFN307 Deafness-Oligodontia Syndrome 16
362 ARC003 Auricular Cancer 15
363 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 13
364 ERP001 Ear Pits, Posterior Helical 12
365 RNL112 Renal, Genital, and Middle Ear Anomalies 12
366 EXT018 External Ear Basal Cell Carcinoma 11
367 RNL032 Renal Caliceal Diverticuli Deafness 11
368 PLY016 Polyp of Middle Ear 10
369 NTR010 Neutropenia Monocytopenia Deafness 10
370 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 8
371 SCH028 Schlegelberger Grote Syndrome 6
372 XLN075 X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 5
373 ENC015 Enchondromatosis Dwarfism Deafness 3
374 SDD008 Sudden Sensorineural Hearing Loss 45
375 DNR002 Duane-Radial Ray Syndrome 45
376 c ALP105 Alport Syndrome 2, Autosomal Recessive 44
377 c ATS015 Autosomal Dominant Alport Syndrome 35
378 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 32
379 c JRV002 Jervell and Lange-Nielsen Syndrome 2 27
380 MTC026 Mitochondrial Myopathy with Lactic Acidosis 27
381 CMB084 Combined Oxidative Phosphorylation Deficiency 34 24
382 c DFN367 Deafness, Autosomal Recessive 110 21
383 c DFN328 Deafness, Autosomal Dominant 72 21
384 c DFN369 Deafness, Autosomal Recessive 111 20
385 c DFN325 Deafness, Autosomal Recessive 108 20
386 c DFN368 Deafness, Autosomal Dominant 74 20
387 c DFN371 Deafness, Autosomal Recessive 112 20
388 SNT004 Sinoatrial Node Dysfunction and Deafness 19
389 c DFN335 Deafness, Autosomal Dominant 71 19
390 c DFN370 Deafness, X-Linked 7 19
391 c DFN365 Deafness, Autosomal Recessive 109 19
392 c DFN337 Deafness, Autosomal Recessive 107 19
393 P FML056 Familial Deafness 18
394 CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 15
395 AYZ001 Ayazi Syndrome 9
396 P DST002 Distal Arthrogryposis 60
397 c ART144 Arthrogryposis, Distal, Type 1a 53
398 c ART120 Arthrogryposis, Distal, Type 3 52
399 ADT003 Auditory System Disease 52
400 c ART155 Arthrogryposis, Distal, Type 2b1 47
401 c ART061 Arthrogryposis, Distal, Type 2a 45
402 c ART146 Arthrogryposis, Distal, Type 9 42
403 AYM001 Ayme-Gripp Syndrome 39
404 c ALP104 Alport Syndrome 3, Autosomal Dominant 39
405 c ART147 Arthrogryposis, Distal, Type 7 36
406 c ART119 Arthrogryposis, Distal, Type 5 34
407 ABR009 Abruzzo-Erickson Syndrome 33
408 BRN062 Burn-Mckeown Syndrome 30
409 c ATS006 Autosomal Recessive Nonsyndromic Deafness 29
410 c ART112 Arthrogryposis, Distal, Type 10 29
411 c ART104 Arthrogryposis, Distal, Type 5d 28
412 c ART128 Arthrogryposis, Distal, Type 6 27
413 c ART131 Arthrogryposis, Distal, Type 4 25
414 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 25
415 c ART122 Arthrogryposis, Distal, Type 8 25
416 c PRR024 Perrault Syndrome 3 24
417 DFN313 Deafness-Hypogonadism Syndrome 24
418 c ART060 Arthrogryposis, Distal, Type 1b 20
419 TND007 Tune Deafness 19
420 c ART054 Arthrogryposis, Distal, Type 2e 17
421 c ART156 Arthrogryposis, Distal, Type 2b2 17
422 c ART157 Arthrogryposis, Distal, Type 2b3 16
423 MDD006 Middle Ear Cholesterol Granuloma 13
424 RRD001 Reardon Wilson Cavanagh Syndrome 11
425 WLL007 Wells-Jankovic Syndrome 9
426 RMS002 Ramos Arroyo Clark Syndrome 9
427 MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 8
428 FTZ004 Fitzsimmons Walson Mellor Syndrome 7
429 OTT002 Otitis Media 69
430 P DYS154 Dystonia 65
431 c DYS056 Dystonia 12 54
432 MDD010 Middle Ear Disease 47
433 ERM002 Ear Malformation 38
434 c DYS119 Dystonia 9 38
435 DFN007 Deafness Enamel Hypoplasia Nail Defects 33
436 OCL048 Oculoauricular Syndrome 32
437 c HRD198 Hereditary Dystonia 32
438 c DYS059 Dystonia 16 31
439 c DYS146 Dystonia 24 29
440 c DYS162 Dystonia, Juvenile-Onset 27
441 c DYS145 Dystonia 23 27
442 APC009 Apocrine Gland Secretion, Variation in 25
443 NNS044 Non-Syndromic Genetic Deafness 25
444 DFN341 Deafness, Unilateral 24
445 c DYS151 Dystonia 25 24
446 c DYS172 Dystonia 27 23
447 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 23
448 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 23
449 c DYS138 Dystonia 21 22
450 ATX037 Ataxia-Deafness-Retardation Syndrome 21
451 EXT056 External Ear Disease 20
452 BRN125 Branchiogenic-Deafness Syndrome 19
453 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 18
454 SPS192 Spastic Paraparesis and Deafness 18
455 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 17
456 GMG001 Gemignani Syndrome 17
457 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 16
458 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 16
459 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 16
460 DFN311 Deafness-Craniofacial Syndrome 15
461 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 15
462 THM020 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 14
463 c OTF001 Otof-Related Deafness 14
464 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 13
465 ERL045 Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 13
466 c KMT002 Kmt2b-Related Dystonia 13
467 ERX001 Ear Exostoses 10
468 SNT001 Santos Mateus Leal Syndrome 9
469 CRN284 Corneal Degeneration, Ribbonlike, with Deafness 8
470 c DFN028 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 7
471 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
472 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 6
473 ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 6
474 HRD108 Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay 5
475 SCR042 Secretory Diarrhea, Myopathy, and Deafness 5
476 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
477 NCR006 Necrosis of Ear Ossicle 5
478 CCH003 Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 4
479 PST097 Postlingual Non-Syndromic Genetic Deafness 4
480 PRL044 Prelingual Non-Syndromic Genetic Deafness 4
481 OPT022 Optic Atrophy 1 and Deafness 3
482 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
483 DWR004 Dwarfism Deafness Retinitis Pigmentosa 3
484 CRD024 Cardiomyopathy Diabetes Deafness 2
485 DFN002 Dfnx1 Nonsyndromic Hearing Loss and Deafness 2
486 SHR019 Short Stature Microcephaly Seizures Deafness 2
487 RTN040 Retinis Pigmentosa Deafness Hypogenitalism 2
488 NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 2
489 CLF016 Cleft Palate Colobomata Radial Synostosis Deafness 2
490 GLS014 Glossopalatine Ankylosis Micrognathia Ear Anomalies 2
491 MNR012 Meniere Disease 57
492 BRN003 Branchiooculofacial Syndrome 55
493 P BRT004 Bartter Disease 53
494 c BRN108 Branchiootic Syndrome 1 50
495 P ARC016 Auriculocondylar Syndrome 1 49
496 c BRT042 Bartter Syndrome, Type 3 44
497 P OTT001 Otitis Externa 43
498 c MLT059 Multiple Synostoses Syndrome 1 30
499 c MLG042 Malignant Otitis Externa 29
500 c BRN128 Branchiootic Syndrome 3 27
501 OTM001 Otomycosis 26
502 ADH006 Adhesive Otitis Media 26
503 c MLT060 Multiple Synostoses Syndrome 2 25
504 c MLT078 Multiple Synostoses Syndrome 3 23
505 c BRN073 Branchiootic Syndrome 2 22
506 c BRT024 Bartter Syndrome Type 4 21
507 CRT007 Cortical Deafness 20
508 DFN362 Deafness, Autosomal Dominant 34, with or Without Inflammation 19
509 c MLT166 Multiple Synostoses Syndrome 4 18
510 LBR032 Leber Congenital Amaurosis with Early-Onset Deafness 16
511 c DFN186 Deafness, Y-Linked 1 16
512 SRS002 Serous Glue Ear 6
513 HMF006 Hemifacial Microsomia 58
514 c USH037 Usher Syndrome, Type Iia 47
515 MRS002 Marshall Syndrome 44
516 AGR019 Age-Related Hearing Loss 38
517 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 35
518 SSC001 Susac Syndrome 35
519 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
520 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 25
521 MCR119 Microtia, Hearing Impairment, and Cleft Palate 22
522 SVR009 Seaver Cassidy Syndrome 19
523 PHV001 Phaver Syndrome 18
524 VLJ001 Viljoen Kallis Voges Syndrome 16
525 ARC009 Auriculoosteodysplasia 16
526 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 14
527 CHL021 Cholesteatoma of External Ear 12
528 c DFN372 Deafness, Y-Linked 2 11
529 MHS001 Mehes Syndrome 8
530 P TRC072 Treacher Collins Syndrome 1 63
531 P WRD001 Waardenburg's Syndrome 57
532 c WRD033 Waardenburg Syndrome, Type 2e 52
533 RYN005 Raynaud Phenomenon 52
534 CGN006 Cogan Syndrome 51
535 c SPL067 Split-Hand/foot Malformation 1 47
536 c WRD020 Waardenburg Syndrome, Type 4a 46
537 VST004 Vestibular Disease 45
538 P MLT072 Multiple Synostoses Syndrome 45
539 c WRD031 Waardenburg Syndrome, Type 3 44
540 c SPL034 Split-Hand/foot Malformation 4 42
541 c USH040 Usher Syndrome, Type Id 42
542 c USH020 Usher Syndrome, Type Iic 41
543 P SPL061 Split Hand-Foot Malformation 40
544 c USH039 Usher Syndrome, Type Ic 39
545 c SPL024 Split-Hand/foot Malformation 3 38
546 c SPL070 Split-Hand/foot Malformation 2 37
547 c ATS018 Autosomal Recessive Alport Syndrome 37
548 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 37
549 c SPL033 Split-Hand/foot Malformation 6 37
550 SPR126 Superior Semicircular Canal Dehiscence 36
551 c SPL025 Split-Hand/foot Malformation 5 34
552 P XLN231 X-Linked Alport Syndrome 34
553 P OTF004 Otofaciocervical Syndrome 1 34
554 c WRD010 Waardenburg Syndrome Type 4 33
555 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 32
556 PTL001 Patulous Eustachian Tube 31
557 MCR093 Microtia-Anotia 29
558 c DFN280 Deafness, Autosomal Recessive 26
559 CHR506 Choroideremia, Deafness, and Mental Retardation 26
560 LCH015 Lichtenstein-Knorr Syndrome 26
561 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 24
562 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 24
563 c CNR041 Cone-Rod Dystrophy and Hearing Loss 2 23
564 P CNR040 Cone-Rod Dystrophy and Hearing Loss 1 23
565 c WRD022 Waardenburg Syndrome, Type 2d 23
566 c WRD029 Waardenburg Syndrome, Type 2b 23
567 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 22
568 DSC001 Discharging Ear 22
569 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 21
570 P HML046 Heimler Syndrome 2 20
571 c HML047 Heimler Syndrome 1 20
572 HYP489 Hypotrichosis-Deafness Syndrome 19
573 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 18
574 SMS004 Simosa Craniofacial Syndrome 18
575 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18
576 c WRD026 Waardenburg Syndrome, Type 2c 17
577 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
578 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 16
579 PRR015 Preauricular Fistulae, Congenital 16
580 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 16
581 WLF014 Wolfram Syndrome, Mitochondrial Form 15
582 c DFN373 Deafness, Autosomal Recessive 113 15
583 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
584 c DFN374 Deafness, Autosomal Recessive 100 14
585 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 14
586 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 14
587 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 14
588 CLF043 Cleft Palate, Deafness, and Oligodontia 13
589 CTR153 Cataract-Deafness-Hypogonadism Syndrome 13
590 SPN413 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 12
591 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 12
592 XLN128 X-Linked Intellectual Disability, Abidi Type 12
593 INT036 Internal Auditory Canal Lipoma 12
594 c DFN345 Deafness, Congenital, with Total Albinism 11
595 HRD199 Hereditary Hearing Loss and Deafness 11
596 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 11
597 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 11
598 CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 11
599 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
600 HYP738 Hyperlipoproteinemia, Type Ii, and Deafness 10
601 ATX044 Ataxia, Deafness, and Cardiomyopathy 10
602 c DFN025 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 10
603 MDD017 Middle Ear Neuroendocrine Tumor 10
604 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10
605 CRB178 Cerebellar Ataxia and Neurosensory Deafness 10
606 OSS016 Ossified Ear Cartilages 10
607 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
608 SGL001 Siegler Brewer Carey Syndrome 9
609 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 9
610 EXT004 External Auditory Meatus Lipoma 9
611 c DFN024 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 9
612 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 8
613 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 8
614 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 8
615 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 8
616 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 8
617 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 8
618 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 8
619 EPP023 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 8
620 RTN205 Retinitis Pigmentosa Inversa with Deafness 8
621 PFF002 Pfeiffer Kapferer Syndrome 8
622 NPH050 Nephropathy, Progressive, with Deafness 8
623 OST161 Osteoma of Middle Ear 8
624 PLM166 Pulmonic Stenosis and Deafness 8
625 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 8
626 ATR086 Atresia of External Auditory Canal and Conductive Deafness 7
627 HRY009 Hairy Ears, Y-Linked 7
628 DFN359 Deafness, Unilateral, with Delayed Endolymphatic Hydrops 7
629 TBB007 Tibia, Absence of, with Congenital Deafness 7
630 SCH020 Schaap Taylor Baraitser Syndrome 7
631 DFN339 Deafness, Mid-Tone Neural 7
632 EXC005 Exchondrosis of Pinna, Posterior 7
633 ERS003 Ears, Ability to Move 7
634 MYC082 Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 7
635 BGT001 Bagatelle Cassidy Syndrome 7
636 ERF003 Ear Folding 7
637 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 7
638 FLS002 Flushing of Ears and Somnolence 7
639 ERR001 Earring Holes, Natural 6
640 DFN346 Deafness, Neural, Congenital Moderate 6
641 DFN342 Deafness with Anhidrotic Ectodermal Dysplasia 6
642 IDK001 Iida Kannari Syndrome 6
643 ERF002 Ear Flare 6
644 ERN001 Ear Antitragus, Tag at Base of 6
645 ERW002 Ear Without Helix 6
646 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
647 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
648 ISL023 Isolated Congenital Auditory Ossicle Malformation 5
649 INN001 Inner Ear Cancer 5
650 BRC117 Brachydactyly, Intraventricular Septal Defect, and Deafness 4
651 DSL001 Dislocation of Ear Ossicle 4
652 c DFN026 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 3
653 DFN013 Deafness Mixed with Perilymphatic Gusher, X-Linked 2
654 DFN032 Deafness, Isolated, Due to Mitochondrial Transmission 2
655 DFN011 Deafness Hypospadias Metacarpal and Metatarsal Syndrome 2
656 DFN037 Deafness, X-Linked, Dfn 2
657 DFN022 Deafness X-Linked, Dfn3 2
658 DFN008 Deafness Goiter Stippled Epiphyses 2
659 DFN019 Deafness Progressive Cataract Autosomal Dominant 2
660 NNS010 Nonsyndromic Hearing Loss and Deafness, Mitochondrial 1
661 NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 1
662 P ATX030 Ataxia-Telangiectasia 82
663 P NNN008 Noonan Syndrome 1 78
664 P NRF023 Neurofibromatosis, Type Ii 75
665 c NNN010 Noonan Syndrome 3 65
666 P CCK001 Cockayne Syndrome 65
667 NRR002 Norrie Disease 64
668 c CNG411 Congenital Disorder of Glycosylation, Type in 64
669 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 60
670 P WLF004 Wolfram Syndrome 60
671 NTH001 Netherton Syndrome 59
672 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 58
673 P STC001 Stickler Syndrome 56
674 c WLF013 Wolfram Syndrome 1 55
675 ART002 Arts Syndrome 55
676 c NNN012 Noonan Syndrome 5 55
677 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
678 c NNN009 Noonan Syndrome 2 53
679 P OTS001 Otosclerosis 53
680 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
681 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
682 MTN003 Motion Sickness 51
683 c CCK007 Cockayne Syndrome B 50
684 P PRX021 Proximal Symphalangism 49
685 c WRD032 Waardenburg Syndrome, Type 2a 48
686 SPP008 Suppurative Otitis Media 48
687 KRT010 Kartagener Syndrome 48
688 P MRD002 Marden-Walker Syndrome 47
689 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 46
690 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
691 c WRD019 Waardenburg Syndrome, Type 4b 46
692 c USH021 Usher Syndrome, Type Iid 46
693 c NNN013 Noonan Syndrome 6 45
694 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
695 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
696 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
697 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
698 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
699 c NNN011 Noonan Syndrome 4 42
700 DBT090 Diabetes and Deafness, Maternally Inherited 42
701 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
702 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
703 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
704 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
705 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
706 P MTC010 Mitochondrial Dna Depletion Syndrome 41
707 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
708 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
709 P LBY004 Labyrinthitis 40
710 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
711 c OTP007 Otopalatodigital Syndrome, Type Ii 40
712 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 40
713 c NNN021 Noonan Syndrome 8 39
714 c NNN024 Noonan Syndrome 9 39
715 c VNM003 Van Maldergem Syndrome 1 39
716 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
717 PRP028 Peripheral Vertigo 38
718 P BRN042 Branchiootic Syndrome 38
719 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
720 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
721 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
722 c NNN025 Noonan Syndrome 10 37
723 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
724 MND025 Mandibulofacial Dysostosis with Alopecia 37
725 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
726 EMN001 Emanuel Syndrome 36
727 c USH042 Usher Syndrome, Type Ig 36
728 c WRD024 Waardenburg Syndrome, Type 4c 36
729 c CNG379 Congenital Disorder of Glycosylation, Type It 36
730 c ATS076 Autosomal Recessive Stickler Syndrome 36
731 MST019 Mastoiditis 36
732 TYM001 Tympanosclerosis 35
733 WRS002 Warsaw Breakage Syndrome 35
734 SPR006 Sparganosis 35
735 MCR103 Microtia 35
736 c NNN020 Noonan Syndrome 7 35
737 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
738 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
739 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
740 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
741 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
742 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
743 SPC001 Space Motion Sickness 33
744 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 33
745 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
746 c CHR097 Chronic Purulent Otitis Media 32
747 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
748 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
749 PRL001 Purulent Labyrinthitis 32
750 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
751 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
752 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
753 ARL004 Aural Atresia, Congenital 32
754 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
755 LMB010 Lambert Syndrome 31
756 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
757 c CNG188 Congenital Disorder of Glycosylation, Type if 31
758 c CCK002 Cockayne Syndrome Type I 31
759 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
760 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 31
761 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
762 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
763 P VNM004 Van Maldergem Syndrome 30
764 c USH031 Usher Syndrome, Type Ij 30
765 c STC013 Stickler Syndrome, Type Ii 30
766 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
767 DRG025 Drug-Induced Hearing Loss 30
768 49X001 49, Xxxxx 29
769 MXL016 Maxillonasal Dysplasia, Binder Type 29
770 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 29
771 CCH001 Cochlear Disease 29
772 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
773 NNS006 Non-Suppurative Otitis Media 28
774 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
775 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
776 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
777 c SYM022 Symphalangism, Proximal, 1a 28
778 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
779 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
780 c OTF003 Otofaciocervical Syndrome 2 27
781 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
782 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 26
783 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
784 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 26
785 c CCK004 Cockayne Syndrome Type Iii 25
786 c VNM002 Van Maldergem Syndrome 2 25
787 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
788 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 25
789 TYM002 Tympanic Membrane Disease 25
790 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
791 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 24
792 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
793 ADT001 Auditory Agnosia 23
794 c ARC011 Auriculocondylar Syndrome 2 23
795 FNT003 Fountain Syndrome 23
796 c OTS005 Otosclerosis 1 22
797 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
798 c TRC073 Treacher Collins Syndrome 2 22
799 SWN003 Sweeney-Cox Syndrome 22
800 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
801 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
802 c TRC071 Treacher Collins Syndrome 3 22
803 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
804 PRL021 Perilymphatic Fistula 21
805 c STC011 Stickler Syndrome, Type V 20
806 BLP009 Blepharonasofacial Malformation Syndrome 20
807 c ARC017 Auriculocondylar Syndrome 3 20
808 c STC012 Stickler Syndrome, Type Iv 19
809 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
810 c PRR022 Perrault Syndrome 2 19
811 c STC007 Stickler Syndrome, Type 3 19
812 NTH002 Nathalie Syndrome 19
813 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
814 ERM001 Ermine Phenotype 19
815 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
816 c SYM019 Symphalangism, Proximal, 1b 18
817 RNS005 Rnase T2-Deficient Leukoencephalopathy 18
818 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 18
819 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 18
820 EST006 Eustachian Tube Disease 18
821 SRS004 Serous Labyrinthitis 17
822 c MRD001 Marden Walker Like Syndrome 17
823 P PRL012 Purulent Acute Otitis Media 17
824 c OTS012 Otosclerosis 10 16
825 c OTS007 Otosclerosis 3 16
826 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 16
827 c OTS006 Otosclerosis 2 15
828 c MTC014 Mitochondrial Dna Deletion Syndromes 15
829 TYS007 Tyshchenko Syndrome 15
830 c OTS010 Otosclerosis 7 15
831 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 15
832 c OTS011 Otosclerosis 8 14
833 P OTP002 Otopalatodigital Spectrum Disorders 14
834 c OTS008 Otosclerosis 4 14
835 MYR001 Myringitis Bullosa Hemorrhagica 13
836 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13
837 INT027 Internal Auditory Canal Meningioma 13
838 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
839 OTS003 Otosalpingitis 13
840 c OTS009 Otosclerosis 5 13
841 ACT083 Acute Serous Otitis Media 12
842 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
843 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
844 FCL006 Focal Labyrinthitis 10
845 PRC015 Perichondritis of Auricle 10
846 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 10
847 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
848 P ACT001 Acute Tympanitis 9
849 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 8
850 TXC006 Toxic Labyrinthitis 8
851 CHL020 Cholesteatoma of Attic 7
852 CHR042 Chronic Atticoantral Disease 7
853 c CHR015 Chronic Tympanitis 6
854 1P3003 1p35.2 Microdeletion Syndrome 6
855 BLD055 Blue Drum Syndrome 6
856 ACT015 Active Cochlear Meniere's Disease 6
857 P ACT045 Acute Eustachian Salpingitis 6
858 ACT013 Active Cochleovestibular Meniere's Disease 6
859 c CHR007 Chronic Eustachian Salpingitis 6
860 CHR049 Chronic Tubotympanic Suppurative Otitis Media 6
861 ACT014 Active Vestibular Meniere's Disease 6
862 CCH007 Cochleovestibular Dysplasia 6
863 EXT043 External Auditory Canal Aplasia/hypoplasia 6
864 UNL001 Unilateral Hyperactive Labyrinth 5
865 LBY002 Labyrinthine Bilateral Reactive Loss 5
866 BLT002 Bilateral Hyperactive Labyrinth 5
867 LBY001 Labyrinthine Unilateral Reactive Loss 5
868 BLT004 Bilateral Hypoactive Labyrinth 5
869 c CHR041 Chronic Perichondritis of Pinna 5
870 ACT082 Acute Sanguinous Otitis Media 5
871 c BRN138 Branchiootorenal Spectrum Disorder 5
872 CHR052 Chronic Fungal Otitis Externa 5
873 P ACT007 Acute Perichondritis of Pinna 4
874 ACT044 Acute Infection of Pinna 4
875 UNL003 Unilateral Hypoactive Labyrinth 4
876 ATR004 Atrophic Nonflaccid Tympanic Membrane 4
877 ATR006 Atrophic Flaccid Tympanic Membrane 4
878 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 50
879 CWC001 Cowchock Syndrome 36
880 CHR629 Charcot-Marie-Tooth Disease and Deafness 45
881 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 41
882 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 15
883 P VHW001 Vohwinkel Syndrome 40
884 c VHW003 Vohwinkel Syndrome, Variant Form 29
885 c OPT053 Optic Atrophy 1 55
886 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
887 ABC001 Abcd Syndrome 32
888 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 27
889 c OPT064 Optic Atrophy 11 24
890 c OPT024 Optic Atrophy 5 24
891 c OPT065 Optic Atrophy 9 24
892 c OPT023 Optic Atrophy 2 22
893 P PRM016 Primary Optic Atrophy 22
894 c OPT025 Optic Atrophy 6 21
895 c OPT060 Optic Atrophy 8 21
896 c OPT059 Optic Atrophy 4 16
897 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 18
898 PND002 Pendred Syndrome 58
899 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 19
900 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 18
901 MDD004 Middle Ear Adenocarcinoma 16
902 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
903 JHN004 Johnson Neuroectodermal Syndrome 32
904 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 22
905 RBF002 Riboflavin Transporter Deficiency Neuronopathy 20
906 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
907 P DLT002 Dilated Cardiomyopathy 75
908 SKN019 Skin Melanoma 67
909 c PRG018 Paragangliomas 1 59
910 P PRG013 Paraganglioma 58
911 c CRD099 Cardiomyopathy, Dilated, 1e 56
912 c CRD187 Cardiomyopathy, Dilated, 3b 48
913 c CRD233 Cardiomyopathy, Dilated, 1b 44
914 c CRD093 Cardiomyopathy, Dilated, 1a 44
915 c CRD097 Cardiomyopathy, Dilated, 1d 43
916 c CRD105 Cardiomyopathy, Dilated, 1o 35
917 c CRD069 Cardiomyopathy, Dilated, 1h 33
918 c PRG021 Paragangliomas 4 31
919 c ATM102 Autoimmune Cardiomyopathy 30
920 c PRG020 Paragangliomas 3 30
921 c CRD104 Cardiomyopathy, Dilated, 1p 30
922 c CRD102 Cardiomyopathy, Dilated, 1j 29
923 c NNS018 Nonsyndromic Paraganglioma 28
924 c PRG019 Paragangliomas 2 27
925 c CRD155 Cardiomyopathy, Dilated, 1kk 24
926 c CRD107 Cardiomyopathy, Dilated, 1r 23
927 c CRD101 Cardiomyopathy, Dilated, 1x 22
928 c CRD113 Cardiomyopathy, Dilated, 1v 22
929 c CRD063 Cardiomyopathy, Dilated, 2a 21
930 c PRG094 Paragangliomas 5 21
931 c CRD091 Cardiomyopathy, Dilated, 1dd 21
932 c CRD244 Cardiomyopathy, Dilated, 2c 20
933 c CRD162 Cardiomyopathy, Dilated, 1ii 20
934 c CRD153 Cardiomyopathy, Dilated, 2b 20
935 c CRD114 Cardiomyopathy, Dilated, 1m 20
936 c CRD159 Cardiomyopathy, Dilated, 1hh 20
937 c CRD149 Cardiomyopathy, Dilated, 1jj 19
938 c CRD173 Cardiomyopathy, Dilated, 1nn 19
939 c CRD112 Cardiomyopathy, Dilated, 1u 19
940 c CRD090 Cardiomyopathy, Dilated, 1l 19
941 c CRD080 Cardiomyopathy, Dilated, 1g 19
942 c CRD082 Cardiomyopathy, Dilated, 1gg 19
943 c CRD115 Cardiomyopathy, Dilated, 1cc 19
944 c CRD108 Cardiomyopathy, Dilated, 1bb 19
945 c CRD092 Cardiomyopathy, Dilated, 1w 18
946 c CRD111 Cardiomyopathy, Dilated, 1i 18
947 c CRD060 Cardiomyopathy, Dilated, 1z 18
948 c CRD096 Cardiomyopathy, Dilated, 1ee 18
949 c CRD064 Cardiomyopathy, Dilated, 1ff 17
950 c CRD070 Cardiomyopathy, Dilated, 1k 15
951 c CRD071 Cardiomyopathy, Dilated, 1q 15
952 c DLT017 Dilated Cardiomyopathy 1t 14
953 c LMN001 Lmna-Related Dilated Cardiomyopathy 11
954 c CRD027 Cardiomyopathy Due to Anthracyclines 9
955 RNS001 Raine Syndrome 52
956 c WRD030 Waardenburg Syndrome, Type 1 58
957 P LPR002 Leopard Syndrome 51
958 c USH038 Usher Syndrome, Type Iiia 44
959 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 43
960 P OTS002 Otospondylomegaepiphyseal Dysplasia 41
961 c LPR007 Leopard Syndrome 3 21
962 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 21
963 c LPR011 Leopard Syndrome 2 17
964 P PRM011 Primary Ciliary Dyskinesia 55
965 WLF002 Wolf-Hirschhorn Syndrome 54
966 RSD004 Rosai-Dorfman Disease 51
967 c CLR131 Ciliary Dyskinesia, Primary, 1 51
968 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 47
969 P KLP003 Klippel-Feil Syndrome 46
970 MLN014 Melnick-Needles Syndrome 42
971 c BRN131 Branchiootorenal Syndrome 1 41
972 c OTP006 Otopalatodigital Syndrome, Type I 41
973 GNC003 Geniculate Herpes Zoster 40
974 P GNR008 Generalized Resistance to Thyroid Hormone 40
975 KTL001 Keutel Syndrome 39
976 LYM094 Lymphedema, Primary, with Myelodysplasia 31
977 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 29
978 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
979 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 27
980 c CLR090 Ciliary Dyskinesia, Primary, 22 26
981 c CLR114 Ciliary Dyskinesia, Primary, 30 26
982 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 25
983 EVN003 Even-Plus Syndrome 25
984 c CLR066 Ciliary Dyskinesia, Primary, 2 25
985 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 24
986 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 24
987 c CLR105 Ciliary Dyskinesia, Primary, 20 23
988 c CLR094 Ciliary Dyskinesia, Primary, 28 23
989 c CLR095 Ciliary Dyskinesia, Primary, 19 23
990 c CLR102 Ciliary Dyskinesia, Primary, 17 23
991 c CLR106 Ciliary Dyskinesia, Primary, 26 22
992 c CLR126 Ciliary Dyskinesia, Primary, 35 22
993 c CLR125 Ciliary Dyskinesia, Primary, 33 22
994 c CLR116 Ciliary Dyskinesia, Primary, 29 22
995 c CLR098 Ciliary Dyskinesia, Primary, 27 22
996 c CLR042 Ciliary Dyskinesia, Primary, 6 22
997 c CLR140 Ciliary Dyskinesia, Primary, 40 22
998 c CLR135 Ciliary Dyskinesia, Primary, 7 21
999 c CLR117 Ciliary Dyskinesia, Primary, 32 21
1000 c CLR088 Ciliary Dyskinesia, Primary, 21 21
1001 c CLR101 Ciliary Dyskinesia, Primary, 25 21
1002 c CLR059 Ciliary Dyskinesia, Primary, 13 21
1003 c CLR097 Ciliary Dyskinesia, Primary, 23 21
1004 c CLR139 Ciliary Dyskinesia, Primary, 39 21
1005 c CLR092 Ciliary Dyskinesia, Primary, 18 21
1006 c CLR104 Ciliary Dyskinesia, Primary, 15 21
1007 c CLR107 Ciliary Dyskinesia, Primary, 24 21
1008 c CLR054 Ciliary Dyskinesia, Primary, 12 20
1009 c CLR099 Ciliary Dyskinesia, Primary, 16 20
1010 c CLR136 Ciliary Dyskinesia, Primary, 9 20
1011 c CLR138 Ciliary Dyskinesia, Primary, 38 20
1012 c CLR091 Ciliary Dyskinesia, Primary, 14 19
1013 c BRN086 Branchiootorenal Syndrome 2 19
1014 c CLR124 Ciliary Dyskinesia, Primary, 34 19
1015 c CLR134 Ciliary Dyskinesia, Primary, 3 19
1016 c CLR053 Ciliary Dyskinesia, Primary, 11 18
1017 c CLR123 Ciliary Dyskinesia, Primary, 37 18
1018 c CLR056 Ciliary Dyskinesia, Primary, 10 18
1019 c CLR067 Ciliary Dyskinesia, Primary, 4 17
1020 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 16
1021 c CLR069 Ciliary Dyskinesia, Primary, 8 16
1022 KSZ001 Kasznica Carlson Coppedge Syndrome 15
1023 DPL003 Diploid-Triploid Mosaicism 15
1024 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 14
1025 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 14
1026 OSS006 Ossicular Malformations, Familial 10
1027 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 6
1028 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
1029 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 2
1030 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 2
1031 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
1032 AND019 Andersen Cardiodysrhythmic Periodic Paralysis 63
1033 DGR001 Digeorge Syndrome 61
1034 ACS001 Acoustic Neuroma 61
1035 P EPS003 Episodic Ataxia 59
1036 c ORF040 Orofaciodigital Syndrome Viii 59
1037 c EPS042 Episodic Ataxia, Type 1 58
1038 c EPS035 Episodic Ataxia, Type 2 57
1039 TRM010 Traumatic Brain Injury 56
1040 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 55
1041 CRT017 Cartilage Disease 53
1042 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 49
1043 c ORF034 Orofaciodigital Syndrome Vi 49
1044 ACR013 Acrodysostosis 47
1045 P BRN006 Branchiootorenal Syndrome 46
1046 P FRN012 Frontometaphyseal Dysplasia 44
1047 NRF008 Neurofibromatosis-Noonan Syndrome 43
1048 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
1049 BNT003 Bent Bone Dysplasia Syndrome 41
1050 BNG018 Benign Paroxysmal Positional Nystagmus 40
1051 c EPS017 Episodic Ataxia, Type 6 39
1052 c STC015 Stickler Syndrome, Type I 39
1053 HYD001 Hydranencephaly 39
1054 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 37
1055 P ADT009 Auditory Neuropathy Spectrum Disorder 36
1056 VST001 Vestibular Neuronitis 35
1057 c LPR012 Leopard Syndrome 1 34
1058 GLS004 Glossopharyngeal Neuralgia 34
1059 c ORF035 Orofaciodigital Syndrome Iv 34
1060 MHR002 Mohr Syndrome 33
1061 c ORF038 Orofaciodigital Syndrome Iii 32
1062 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 32
1063 c EPS037 Episodic Ataxia, Type 4 31
1064 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 30
1065 HYP674 Hyperostosis Cranialis Interna 30
1066 c FRN048 Frontometaphyseal Dysplasia 2 30
1067 c EPS015 Episodic Ataxia, Type 7 30
1068 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 30
1069 c CCK003 Cockayne Syndrome Type Ii 29
1070 c SNS009 Sensory Neuropathy Type 1 29
1071 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 29
1072 CNT017 Central Nervous System Origin Vertigo 28
1073 VST006 Vestibulocochlear Nerve Disease 28
1074 NBL001 Nablus Mask-Like Facial Syndrome 28
1075 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 28
1076 c FRN049 Frontometaphyseal Dysplasia 1 27
1077 c EPS014 Episodic Ataxia, Type 3 25
1078 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1079 PTR001 Petrositis 24
1080 c EPS034 Episodic Ataxia, Type 5 23
1081 ACR079 Acrodysostosis with Multiple Hormone Resistance 23
1082 c NRP039 Neuropathy, Hereditary Sensory, Type Id 22
1083 ADT002 Auditory System Cancer 22
1084 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1085 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 21
1086 c EPS033 Episodic Ataxia, Type 8 20
1087 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
1088 MND005 Mondini Dysplasia 17
1089 CNG532 Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 14
1090 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 13
1091 CCH008 Cochlear Nerve Deficiency 13
1092 c OTS004 Otosclerosis, Familial 6
1093 NRP028 Neuropathy with Hearing Impairment 5
1094 ACT002 Acute Allergic Serous Otitis Media 5
1095 ACT025 Acute Allergic Sanguinous Otitis Media 5
1096 ACT063 Acute Allergic Mucoid Otitis Media 5
1097 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
1098 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
1099 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 38
1100 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
1101 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
1102 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 16
1103 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1104 P ALP004 Alport Syndrome 64
1105 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
1106 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1107 P HRD021 Hereditary Sensory Neuropathy 50
1108 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 43
1109 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 42
1110 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 37
1111 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1112 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
1113 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
1114 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 31
1115 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29
1116 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
1117 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
1118 c NRP036 Neuropathy, Hereditary Sensory, Type if 25
1119 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 61
1120 c ORF037 Orofaciodigital Syndrome I 55
1121 P ORF001 Orofaciodigital Syndrome 51
1122 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
1123 c ORF046 Orofaciodigital Syndrome Xvi 29
1124 c ORF043 Orofaciodigital Syndrome Ix 28
1125 c ORF033 Orofaciodigital Syndrome V 28
1126 c ORF036 Orofaciodigital Syndrome Xiv 27
1127 c ORF041 Orofaciodigital Syndrome X 27
1128 c ORF051 Orofaciodigital Syndrome Xvii 24
1129 c ORF042 Orofaciodigital Syndrome Xi 24
1130 c ORF052 Orofaciodigital Syndrome Xviii 24
1131 c ORF045 Orofaciodigital Syndrome Xv 24
1132 DFN299 Deafness-Lymphedema-Leukemia Syndrome 21
1133 c ORF039 Orofaciodigital Syndrome Vii 16
1134 c ORF006 Orofaciodigital Syndrome 13 15
1135 c ORF005 Orofaciodigital Syndrome 12 15
1136 P MMP001 Mumps 61
1137 P RNL015 Renal Hypertension 49
1138 MRC004 Murcs Association 32
1139 c RNL113 Renal Failure, Progressive, with Hypertension 30
1140 MLL009 Mullerian Aplasia 29
1141 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1142 c CNG110 Congenital Mumps 8
1143 c NRF024 Neurofibromatosis, Type I 68
1144 P PGT001 Paget's Disease of Bone 59
1145 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1146 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
1147 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
1148 NNN026 Noonan Syndrome with Multiple Lentigines 51
1149 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
1150 c TRC092 Trichorhinophalangeal Syndrome, Type I 44
1151 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44
1152 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
1153 PRL032 Perlman Syndrome 43
1154 c MNT143 Mental Retardation, Autosomal Dominant 13 42
1155 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1156 P MNT319 Mental Retardation, Autosomal Dominant 20 41
1157 STP011 Stapes Ankylosis with Broad Thumbs and Toes 40
1158 c PGT007 Paget Disease of Bone 3 39
1159 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1160 FRN039 Frank-Ter Haar Syndrome 37
1161 c WLF009 Wolfram Syndrome 2 35
1162 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1163 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 32
1164 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
1165 c MNT185 Mental Retardation, Autosomal Dominant 7 30
1166 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
1167 c MNT145 Mental Retardation, Autosomal Recessive 5 30
1168 c MNT210 Mental Retardation, Autosomal Recessive 42 29
1169 c MNT155 Mental Retardation, Autosomal Recessive 2 29
1170 c MNT158 Mental Retardation, Autosomal Dominant 22 29
1171 c MNT212 Mental Retardation, Autosomal Dominant 26 28
1172 c MNT241 Mental Retardation, Autosomal Dominant 32 28
1173 c MNT246 Mental Retardation, Autosomal Dominant 38 28
1174 c MNT183 Mental Retardation, Autosomal Recessive 36 28
1175 c MNT328 Mental Retardation, Autosomal Dominant 52 28
1176 c MNT280 Mental Retardation, Autosomal Dominant 43 28
1177 c MNT157 Mental Retardation, Autosomal Dominant 18 28
1178 c PGT009 Paget Disease of Bone 2, Early-Onset 28
1179 c MNT213 Mental Retardation, Autosomal Recessive 40 27
1180 c MNT262 Mental Retardation, Autosomal Dominant 42 27
1181 c MNT242 Mental Retardation, Autosomal Dominant 40 27
1182 c MNT166 Mental Retardation, Autosomal Recessive 39 27
1183 c MNT270 Mental Retardation, Autosomal Recessive 53 27
1184 c MNT226 Mental Retardation, Autosomal Dominant 31 27
1185 c MNT244 Mental Retardation, Autosomal Recessive 49 27
1186 c MNT273 Mental Retardation, Autosomal Dominant 44 26
1187 c MNT324 Mental Retardation, Autosomal Dominant 49 26
1188 c MNT222 Mental Retardation, Autosomal Dominant 29 26
1189 c MNT214 Mental Retardation, Autosomal Dominant 24 26
1190 c MNT184 Mental Retardation, Autosomal Dominant 11 26
1191 c MNT239 Mental Retardation, Autosomal Dominant 35 26
1192 c MNT287 Mental Retardation, Autosomal Recessive 57 26
1193 c MNT176 Mental Retardation, Autosomal Recessive 38 26
1194 c MNT216 Mental Retardation, Autosomal Recessive 41 26
1195 c MNT325 Mental Retardation, Autosomal Recessive 61 26
1196 c MNT322 Mental Retardation, Autosomal Dominant 27 26
1197 c MNT236 Mental Retardation, Autosomal Dominant 39 26
1198 c MNT211 Mental Retardation, Autosomal Dominant 23 26
1199 c MNT150 Mental Retardation, Autosomal Recessive 15 26
1200 c VRL004 Viral Labyrinthitis 26
1201 c MNT334 Mental Retardation, Autosomal Dominant 57 25
1202 c MNT282 Mental Retardation, Autosomal Recessive 55 25
1203 c MNT219 Mental Retardation, Autosomal Dominant 30 25
1204 c MNT238 Mental Retardation, Autosomal Dominant 34 25
1205 c MNT177 Mental Retardation, Autosomal Recessive 27 25
1206 c MNT332 Mental Retardation, Autosomal Dominant 56 25
1207 c MNT321 Mental Retardation, Autosomal Recessive 37 25
1208 c MNT186 Mental Retardation, Autosomal Dominant 10 25
1209 c MNT272 Mental Retardation, Autosomal Dominant 41 25
1210 c MNT245 Mental Retardation, Autosomal Dominant 36 25
1211 c MNT227 Mental Retardation, Autosomal Recessive 46 25
1212 c MNT221 Mental Retardation, Autosomal Recessive 44 24
1213 c MNT337 Mental Retardation, Autosomal Dominant 58 24
1214 c MNT179 Mental Retardation, Autosomal Dominant 21 24
1215 c MNT154 Mental Retardation, Autosomal Recessive 14 24
1216 c MNT327 Mental Retardation, Autosomal Dominant 51 24
1217 c MNT285 Mental Retardation, Autosomal Recessive 58 24
1218 c MNT323 Mental Retardation, Autosomal Dominant 48 24
1219 c MNT329 Mental Retardation, Autosomal Dominant 53 24
1220 c MNT339 Mental Retardation, Autosomal Recessive 66 24
1221 P TRC031 Trichorhinophalangeal Syndrome 23
1222 c MNT330 Mental Retardation, Autosomal Dominant 54 23
1223 c PGT011 Paget Disease of Bone 6 23
1224 c MNT286 Mental Retardation, Autosomal Dominant 45 23
1225 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1226 c MNT181 Mental Retardation, Autosomal Recessive 35 23
1227 LWR016 Lowry-Maclean Syndrome 23
1228 c MNT338 Mental Retardation, Autosomal Recessive 65 23
1229 c MNT234 Mental Retardation, Autosomal Recessive 48 23
1230 c MNT215 Mental Retardation, Autosomal Recessive 43 22
1231 c MNT336 Mental Retardation, Autosomal Recessive 64 22
1232 c MNT220 Mental Retardation, Autosomal Recessive 45 22
1233 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 22
1234 c MNT225 Mental Retardation, Autosomal Recessive 47 22
1235 c MNT279 Mental Retardation, Autosomal Dominant 47 22
1236 c MNT162 Mental Retardation, Autosomal Recessive 24 22
1237 c MNT278 Mental Retardation, Autosomal Dominant 46 21
1238 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1239 c MNT151 Mental Retardation, Autosomal Recessive 18 21
1240 c MNT263 Mental Retardation, Autosomal Recessive 51 21
1241 c MNT172 Mental Retardation, Autosomal Recessive 25 21
1242 c MNT240 Mental Retardation, Autosomal Dominant 33 21
1243 c MNT335 Mental Retardation, Autosomal Recessive 63 21
1244 c MNT165 Mental Retardation, Autosomal Recessive 28 21
1245 c MNT264 Mental Retardation, Autosomal Recessive 52 21
1246 c MNT163 Mental Retardation, Autosomal Recessive 30 20
1247 c MNT182 Mental Retardation, Autosomal Recessive 19 20
1248 c MNT277 Mental Retardation, Autosomal Recessive 54 20
1249 c MNT281 Mental Retardation, Autosomal Recessive 59 20
1250 c MNT243 Mental Retardation, Autosomal Recessive 50 20
1251 c MNT170 Mental Retardation, Autosomal Recessive 23 20
1252 c MNT167 Mental Retardation, Autosomal Recessive 16 20
1253 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
1254 c MNT180 Mental Retardation, Autosomal Recessive 33 20
1255 c MNT284 Mental Retardation, Autosomal Recessive 56 20
1256 c MNT161 Mental Retardation, Autosomal Recessive 29 19
1257 c MNT160 Mental Retardation, Autosomal Recessive 31 18
1258 c PGT006 Paget Disease of Bone 4 18
1259 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
1260 TNG006 Tunglang Savage Bellman Syndrome 12
1261 c ATS394 Autosomal Dominant Mental Retardation 55 11
1262 MLG028 Malignant Neoplasm of Acoustic Nerve 8
1263 c HRD010 Hereditary Spastic Paraplegia 68
1264 KRN002 Kearns-Sayre Syndrome 63
1265 ALS001 Alstrom Syndrome 57
1266 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
1267 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 53
1268 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
1269 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
1270 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
1271 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
1272 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
1273 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
1274 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
1275 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1276 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
1277 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
1278 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
1279 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
1280 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
1281 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
1282 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
1283 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1284 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
1285 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
1286 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
1287 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
1288 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
1289 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
1290 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
1291 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
1292 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1293 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
1294 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
1295 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
1296 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
1297 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
1298 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
1299 LTR009 Lateral Meningocele Syndrome 35
1300 P SPS012 Spastic Paraplegia 3a 35
1301 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
1302 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
1303 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
1304 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
1305 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
1306 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
1307 c SPS039 Spastic Paraplegia 5a 33
1308 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
1309 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1310 c SPS036 Spastic Paraplegia 3 33
1311 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
1312 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
1313 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
1314 c SPS091 Spastic Paraplegia 4 31
1315 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
1316 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
1317 c SPS021 Spastic Paraplegia 10 30
1318 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
1319 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1320 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
1321 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1322 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
1323 c SPS092 Spastic Paraplegia 11 29
1324 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
1325 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
1326 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
1327 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
1328 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
1329 c SPS025 Spastic Paraplegia 15 28
1330 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
1331 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
1332 c HRD186 Hereditary Spastic Paraplegia 51 28
1333 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
1334 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
1335 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
1336 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
1337 c SPS027 Spastic Paraplegia 17 27
1338 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
1339 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
1340 c SPS013 Spastic Paraplegia 8 25
1341 c SPS020 Spastic Paraplegia 1 25
1342 c SPS041 Spastic Paraplegia 6 25
1343 c SPS023 Spastic Paraplegia 13 24
1344 c SPS042 Spastic Paraplegia 9 23
1345 c SPS037 Spastic Paraplegia 31 22
1346 c SPS028 Spastic Paraplegia 18 22
1347 c SPS034 Spastic Paraplegia 26 22
1348 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
1349 c SPS022 Spastic Paraplegia 12 20
1350 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
1351 c SPS032 Spastic Paraplegia 24 20
1352 c HRD210 Hereditary Spastic Paraplegia 23 20
1353 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
1354 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
1355 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
1356 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
1357 c SPS029 Spastic Paraplegia 19 20
1358 c SPS033 Spastic Paraplegia 25 19
1359 c SPS035 Spastic Paraplegia 29 19
1360 c SPS038 Spastic Paraplegia 39 19
1361 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
1362 c SPS080 Spastic Paraplegia 51 19
1363 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
1364 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
1365 c SPS026 Spastic Paraplegia 16 18
1366 c SPS161 Spastic Paraplegia 32 18
1367 c HRD188 Hereditary Spastic Paraplegia 72 18
1368 c SPS024 Spastic Paraplegia 14 17
1369 c SPS040 Spastic Paraplegia 5b 15
1370 c SPS230 Spastic Paraplegia Type 49 14
1371 c SPS165 Spastic Paraplegia 47 13
1372 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1373 c CCK008 Cockayne Syndrome a 51



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