|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0001022)
|
Albinism |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
6
|
(HPO:0001100)
|
Heterochromia iridis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
8
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
9
|
(HPO:0007443)
|
Partial albinism |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0007509)
|
Patchy hypo- and hyperpigmentation |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0007544)
|
Piebaldism |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
No ocular albinism |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Piebald pigmentary variegation |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|