|
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:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0001053)
|
Hypopigmented skin patches |
|
|
|
|
80 / 7739
|
|
6
|
(HPO:0001100)
|
Heterochromia iridis |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0002216)
|
Premature graying of hair |
|
|
|
|
43 / 7739
|
|
9
|
(HPO:0002226)
|
White eyebrow |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0002227)
|
White eyelashes |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
|
12
|
(OMIM)
|
Bright blue irides |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Decreased myenteric and submucosal ganglia in the bowel |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|