|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0007513)
|
Generalized hypopigmentation |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
5
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0001487)
|
Hypopigmented fundi |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0002226)
|
White eyebrow |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0002227)
|
White eyelashes |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
12
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
|
13
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
14
|
(OMIM)
|
Bilateral congenital profound sensorineural hearing loss |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
No heterochromia irides |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
White-blonde hair |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
|
|
14 / 7739
|