|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
8
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
9
|
(OMIM)
|
Lentigines |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|