|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
6
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0000855)
|
Insulin resistance |
|
|
|
|
32 / 7739
|
|
9
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
12
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
14
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
15
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
19
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
20
|
(HPO:0009125)
|
Lipodystrophy |
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0100679)
|
Lack of skin elasticity |
|
|
|
|
29 / 7739
|
|
22
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
|
23
|
(OMIM)
|
Progeroid appearance |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
25
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
26
|
(OMIM)
|
Poor breast development (in women) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Scleroderma-like changes |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Loss of subcutaneous fat, particularly affecting the limbs |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Loss of subcutaneous fat, generalized |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Increased visceral fat |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|