|
1
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
2
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
3
|
(HPO:0000444)
|
Convex nasal ridge |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
5
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
8
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
10
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
11
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
12
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
|
13
|
(HPO:0007495)
|
Prematurely aged appearance |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
14
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
15
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
17
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0000855)
|
Insulin resistance |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
19
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
22
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
23
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
24
|
(HPO:0009064)
|
Generalized lipodystrophy |
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0009125)
|
Lipodystrophy |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
26
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
27
|
(HPO:0000292)
|
Loss of facial adipose tissue |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0000320)
|
Bird-like facies |
|
|
|
|
4 / 7739
|
|
29
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
|
30
|
(HPO:0000464)
|
Abnormality of the neck |
|
|
|
|
31 / 7739
|
|
31
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
32
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
33
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
|
|
39 / 7739
|
|
34
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
35
|
(HPO:0000905)
|
Progressive clavicular acroosteolysis |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0000987)
|
Atypical scarring of skin |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
37
|
(HPO:0001070)
|
Mottled pigmentation |
|
|
|
|
8 / 7739
|
|
38
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
39
|
(HPO:0001870)
|
Acroosteolysis of distal phalanges (feet) |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
41
|
(HPO:0003074)
|
Hyperglycemia |
|
|
|
|
37 / 7739
|
|
42
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
43
|
(HPO:0003635)
|
Loss of subcutaneous adipose tissue in limbs |
|
|
|
|
6 / 7739
|
|
44
|
(HPO:0005995)
|
Decreased adipose tissue around neck |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
46
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
47
|
(HPO:0009002)
|
Loss of truncal subcutaneous adipose tissue |
|
|
|
|
3 / 7739
|
|
48
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
49
|
(HPO:0009839)
|
Osteolytic defects of the distal phalanges of the hand |
|
|
|
|
6 / 7739
|
|
50
|
(MedDRA:10054008)
|
Delayed closure of cranial sutures |
|
|
|
|
2 / 7739
|
|
51
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
52
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
53
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|