|
1
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0007544)
|
Piebaldism |
|
|
|
|
3 / 7739
|
|
3
|
(HPO:0011365)
|
Patchy hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
7
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
8
|
(HPO:0000153)
|
Abnormality of the mouth |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
9
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
10
|
(HPO:0000431)
|
Wide nasal bridge |
Occasional [Orphanet]
|
|
|
|
290 / 7739
|
|
11
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
12
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
14
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
15
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
16
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
17
|
(HPO:0001100)
|
Heterochromia iridis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
18
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
19
|
(HPO:0002664)
|
Neoplasm |
|
|
|
|
111 / 7739
|
|
20
|
(HPO:0007443)
|
Partial albinism |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0007542)
|
Absent pigmentation of the ventral chest |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
23
|
(OMIM)
|
Frequent epitheliomas |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Absent pigmentation of medial forehead, eyebrows and chin |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Absent pigmentation of ventral chest, abdomen and limbs |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Hyperpigmented borders of unpigmented areas |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Rare Hirschsprung disease |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Occasional deafness |
|
|
|
|
1 / 7739
|
|
29
|
(MedDRA:10025421)
|
Macule |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|