1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
2
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
3
|
(HPO:0000140)
|
Abnormality of the menstrual cycle |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
4
|
(HPO:0000138)
|
Ovarian cyst |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
25 / 7739
|
5
|
(HPO:0000147)
|
Polycystic ovaries |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
6
|
(HPO:0008675)
|
Enlarged polycystic ovaries |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
14 / 7739
|
7
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
8
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
9
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
10
|
(HPO:0000819)
|
Diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
11
|
(HPO:0000826)
|
Precocious puberty |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
12
|
(HPO:0100000)
|
Early onset of sexual maturation |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
9 / 7739
|
13
|
(HPO:0000842)
|
Hyperinsulinemia |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
14
|
(HPO:0000845)
|
Growth hormone excess |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
15
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
22 / 7739
|
16
|
(HPO:0000855)
|
Insulin resistance |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
17
|
(HPO:0000956)
|
Acanthosis nigricans |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
18
|
(HPO:0000975)
|
Hyperhidrosis |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
19
|
(HPO:0000998)
|
Hypertrichosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
20
|
(HPO:0001007)
|
Hirsutism |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
91 / 7739
|
21
|
(HPO:0002230)
|
Generalized hirsutism |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
32 / 7739
|
22
|
(HPO:0004554)
|
Generalized hypertrichosis |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
30 / 7739
|
23
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
24
|
(HPO:0001169)
|
Broad palm |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
43 / 7739
|
25
|
(HPO:0001176)
|
Large hands |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
26
|
(HPO:0001230)
|
Broad metacarpals |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
17 / 7739
|
27
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
28
|
(HPO:0001397)
|
Hepatic steatosis |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
29
|
(HPO:0001399)
|
Hepatic failure |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
30
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
31
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
32
|
(HPO:0001733)
|
Pancreatitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
33
|
(HPO:0001769)
|
Broad foot |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
34
|
(HPO:0001833)
|
Long foot |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
33 / 7739
|
35
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
36
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
37
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
38
|
(HPO:0002757)
|
Recurrent fractures |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
39
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
40
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
41
|
(HPO:0003720)
|
Generalized muscle hypertrophy |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
8 / 7739
|
42
|
(HPO:0100293)
|
Muscle fiber hypertrophy |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
6 / 7739
|
43
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
14 / 7739
|
44
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
45
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
62 / 7739
|
46
|
(HPO:0007178)
|
Motor polyneuropathy |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
31 / 7739
|
47
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
48
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
49
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
|
|
|
|
230 / 7739
|
50
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
51
|
(HPO:0012062)
|
Bone cyst |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
52
|
(HPO:0100820)
|
Glomerulopathy |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
53
|
(HPO:0001658)
|
Myocardial infarction |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
54
|
(HPO:0001681)
|
Angina pectoris |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
55
|
(HPO:0001760)
|
Abnormality of the foot |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
56
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
57
|
(HPO:0100545)
|
Arterial stenosis |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
58
|
(HPO:0002718)
|
Recurrent bacterial infections |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
59
|
(HPO:0002719)
|
Recurrent infections |
Occasional [Orphanet]
|
|
|
|
107 / 7739
|
60
|
(HPO:0002721)
|
Immunodeficiency |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
61
|
(HPO:0001410)
|
Decreased liver function |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
62
|
(HPO:0002155)
|
Hypertriglyceridemia |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
63
|
(HPO:0003077)
|
Hyperlipidemia |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
64
|
(HPO:0003124)
|
Hypercholesterolemia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
65
|
(Orphanet:29420)
|
Storage liver disease |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
66
|
(HPO:0000157)
|
Abnormality of the tongue |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
67
|
(HPO:0000168)
|
Abnormality of the gingiva |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
68
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
69
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
70
|
(MedDRA:10063750)
|
Life expectancy shortened |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
71
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
72
|
(HPO:0100607)
|
Dysmenorrhea |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
73
|
(HPO:0100608)
|
Metrorrhagia |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
74
|
(HPO:0000132)
|
Menorrhagia |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
75
|
(HPO:0007552)
|
Abnormal subcutaneous fat tissue distribution |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
76
|
(HPO:0009064)
|
Generalized lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
77
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
78
|
(HPO:0001249)
|
Intellectual disability |
Frequent [Orphanet]
|
|
|
|
1089 / 7739
|
79
|
(HPO:0001263)
|
Global developmental delay |
Frequent [Orphanet]
|
|
|
|
853 / 7739
|
80
|
(HPO:0001270)
|
Motor delay |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
81
|
(HPO:0001328)
|
Specific learning disability |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
82
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
83
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|