|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
6
|
(HPO:0002216)
|
Premature graying of hair |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
9
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
10
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
11
|
(HPO:0000765)
|
Abnormality of the thorax |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
12
|
(HPO:0100651)
|
Type I diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0100679)
|
Lack of skin elasticity |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
14
|
(HPO:0002621)
|
Atherosclerosis |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
15
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
16
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
17
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
18
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
19
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
20
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
21
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
22
|
(HPO:0001763)
|
Pes planus |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
23
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
|
24
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
25
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
26
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
27
|
(HPO:0007556)
|
Plantar hyperkeratosis |
|
|
|
|
8 / 7739
|
|
28
|
(OMIM)
|
Type IV hyperlipoproteinemia |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Combined defect of insulin, insulinlike growth factor I and epidermal growth factor |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Scleroderma-like changes |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Taut, thin skin |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Moderate plantar hyperkeratosis |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Yellowish spotted discolorations |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Pigmented areas of limbs and trunk |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Broad neurocranium |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Birdlike face |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Moderate micrognathia |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Slight pectus excavatum |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
40
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
41
|
(HPO:0040064)
|
Abnormality of limbs |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
42
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
43
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|