1
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
2
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
3
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
4
|
(HPO:0000506)
|
Telecanthus |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
5
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
6
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
7
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
8
|
(HPO:0011365)
|
Patchy hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
9
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
10
|
(HPO:0002251)
|
Aganglionic megacolon |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
11
|
(HPO:0005214)
|
Intestinal obstruction |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
12
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
13
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
14
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
15
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
16
|
(HPO:0002250)
|
Abnormality of the large intestine |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
17
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
18
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
19
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
20
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
23
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
24
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
25
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
26
|
(HPO:0001053)
|
Hypopigmented skin patches |
|
|
|
|
80 / 7739
|
27
|
(HPO:0001100)
|
Heterochromia iridis |
|
|
|
|
31 / 7739
|
28
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
29
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
30
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
31
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
32
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
33
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
34
|
(HPO:0002226)
|
White eyebrow |
|
|
|
|
10 / 7739
|
35
|
(HPO:0002227)
|
White eyelashes |
|
|
|
|
11 / 7739
|
36
|
(HPO:0002271)
|
Autonomic dysregulation |
|
|
|
|
11 / 7739
|
37
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
38
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|