|
1
|
(HPO:0003777)
|
Pili torti |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000488)
|
Retinopathy |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0002299)
|
Brittle hair |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
5
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
7
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0002224)
|
Woolly hair |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
9
|
(HPO:0005599)
|
Hypopigmentation of hair |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
10
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
11
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
13
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
14
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
15
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
19
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
20
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|