|
1
|
(HPO:0000153)
|
Abnormality of the mouth |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
6
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
7
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
8
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
9
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0100540)
|
Palpebral edema |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0100678)
|
Premature skin wrinkling |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
16
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|