|
1
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
4
|
(HPO:0000506)
|
Telecanthus |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
7
|
(HPO:0001100)
|
Heterochromia iridis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0011365)
|
Patchy hypopigmentation of hair |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
10
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
12
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
13
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
16
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
17
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
18
|
(HPO:0001022)
|
Albinism |
|
|
|
|
43 / 7739
|
|
19
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
20
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0002226)
|
White eyebrow |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0002227)
|
White eyelashes |
|
|
|
|
11 / 7739
|
|
23
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
24
|
(HPO:0007443)
|
Partial albinism |
|
|
|
|
8 / 7739
|
|
25
|
(HPO:0007990)
|
Hypoplastic iris stroma |
|
|
|
|
9 / 7739
|