1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
6
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
7
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
8
|
(HPO:0100783)
|
Breast aplasia |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
9
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
10
|
(HPO:0002763)
|
Abnormal cartilage morphology |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
11
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
12
|
(HPO:0100679)
|
Lack of skin elasticity |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
13
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
14
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
15
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
16
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
17
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
18
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
19
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
20
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
21
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
22
|
(HPO:0000855)
|
Insulin resistance |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
23
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
24
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
25
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
26
|
(HPO:0002645)
|
Wormian bones |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
27
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
28
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
29
|
(HPO:0000320)
|
Bird-like facies |
|
|
|
|
4 / 7739
|
30
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
31
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
32
|
(HPO:0000685)
|
Hypoplasia of teeth |
|
|
|
|
12 / 7739
|
33
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
34
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
|
|
39 / 7739
|
35
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
36
|
(HPO:0000905)
|
Progressive clavicular acroosteolysis |
|
|
|
|
4 / 7739
|
37
|
(HPO:0001070)
|
Mottled pigmentation |
|
|
|
|
8 / 7739
|
38
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
39
|
(HPO:0003074)
|
Hyperglycemia |
|
|
|
|
37 / 7739
|
40
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
41
|
(HPO:0003635)
|
Loss of subcutaneous adipose tissue in limbs |
|
|
|
|
6 / 7739
|
42
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
43
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
44
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
45
|
(HPO:0009839)
|
Osteolytic defects of the distal phalanges of the hand |
|
|
|
|
6 / 7739
|
46
|
(OMIM)
|
Normal or increased facial adipose tissue |
|
|
|
|
3 / 7739
|
47
|
(OMIM)
|
Pointed nose |
|
|
|
|
2 / 7739
|
48
|
(OMIM)
|
Beak nose |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Absence of tongue papillae |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Normal or increased adipose tissue around the neck |
|
|
|
|
3 / 7739
|
51
|
(MedDRA:10054008)
|
Delayed closure of cranial sutures |
|
|
|
|
2 / 7739
|
52
|
(OMIM)
|
Fingertip rounding |
|
|
|
|
1 / 7739
|
53
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
54
|
(OMIM)
|
Soft tissue calcinosis |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Alopecia, partial |
|
|
|
|
4 / 7739
|
56
|
(OMIM)
|
Sparse, lusterless scalp hair |
|
|
|
|
1 / 7739
|
57
|
(MedDRA:10053857)
|
Partial lipodystrophy |
|
|
|
|
8 / 7739
|
58
|
(OMIM)
|
Normal or increased truncal adipose tissue |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Soft tissue or tendinous calcinosis may occur |
|
|
|
|
1 / 7739
|
60
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
61
|
(HPO:0003011)
|
Abnormality of the musculature |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|