|
1
|
(HPO:0002652)
|
Skeletal dysplasia |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
|
2
|
(HPO:0200055)
|
Small hand |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0100678)
|
Premature skin wrinkling |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
|
6
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
7
|
(HPO:0000444)
|
Convex nasal ridge |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
9
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
16
|
(HPO:0001773)
|
Short foot |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
17
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
18
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|