|
1
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
10
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0001063)
|
Acrocyanosis |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
12
|
(HPO:0007418)
|
Alopecia totalis |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
14
|
(OMIM)
|
Bullae without evident trauma |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
|
16
|
(OMIM)
|
Depigmentation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Short tapering fingers |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
20
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
21
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|