|
1
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
3
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
5
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
8
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
|
9
|
(HPO:0000855)
|
Insulin resistance |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
10
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
15
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
16
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
17
|
(HPO:0002797)
|
Osteolysis |
Frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
18
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
19
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
20
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
21
|
(HPO:0003198)
|
Myopathy |
Frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
24
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
25
|
(HPO:0100679)
|
Lack of skin elasticity |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
26
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
27
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
28
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
29
|
(HPO:0000153)
|
Abnormality of the mouth |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
30
|
(HPO:0003394)
|
Muscle cramps |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
31
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
32
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
33
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
34
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
35
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
36
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
37
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
38
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
41
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
42
|
(HPO:0000287)
|
Increased facial adipose tissue |
|
|
|
|
3 / 7739
|
|
43
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
44
|
(HPO:0000320)
|
Bird-like facies |
|
|
|
|
4 / 7739
|
|
45
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
46
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
|
47
|
(HPO:0000468)
|
Increased adipose tissue around the neck |
|
|
|
|
3 / 7739
|
|
48
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
49
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
50
|
(HPO:0000685)
|
Hypoplasia of teeth |
|
|
|
|
12 / 7739
|
|
51
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
52
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
|
|
39 / 7739
|
|
53
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
54
|
(HPO:0000905)
|
Progressive clavicular acroosteolysis |
|
|
|
|
4 / 7739
|
|
55
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
56
|
(HPO:0001070)
|
Mottled pigmentation |
|
|
|
|
8 / 7739
|
|
57
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
58
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
59
|
(HPO:0001870)
|
Acroosteolysis of distal phalanges (feet) |
|
|
|
|
2 / 7739
|
|
60
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
61
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
62
|
(HPO:0003074)
|
Hyperglycemia |
|
|
|
|
37 / 7739
|
|
63
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
|
64
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
65
|
(HPO:0003635)
|
Loss of subcutaneous adipose tissue in limbs |
|
|
|
|
6 / 7739
|
|
66
|
(HPO:0003761)
|
Calcinosis |
|
|
|
|
12 / 7739
|
|
67
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
68
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
69
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
70
|
(HPO:0009125)
|
Lipodystrophy |
|
|
|
|
54 / 7739
|
|
71
|
(HPO:0009839)
|
Osteolytic defects of the distal phalanges of the hand |
|
|
|
|
6 / 7739
|