1
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
25544917
|
IBIS
|
190 / 7739
|
2
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
3993676
|
IBIS
|
459 / 7739
|
3
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
3993676
|
IBIS
|
42 / 7739
|
4
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
1488988
|
IBIS
|
141 / 7739
|
5
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
19283854
|
IBIS
|
76 / 7739
|
6
|
(HPO:0000137)
|
Abnormality of the ovary |
Very frequent [Orphanet]
|
|
3993676
|
IBIS
|
41 / 7739
|
7
|
(HPO:0000278)
|
Retrognathia |
|
|
17150192
|
IBIS
|
100 / 7739
|
8
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
16523513
|
IBIS
|
48 / 7739
|
9
|
(HPO:0000894)
|
Short clavicles |
|
|
19283854
|
IBIS
|
30 / 7739
|
10
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
2738902
|
IBIS
|
1089 / 7739
|
11
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
19283854
|
IBIS
|
64 / 7739
|
12
|
(HPO:0009125)
|
Lipodystrophy |
|
|
19283854
|
IBIS
|
54 / 7739
|
13
|
(HPO:0200021)
|
Down-sloping shoulders |
|
|
12927431
|
IBIS
|
18 / 7739
|
14
|
(OMIM)
|
Narrow, beaked nose |
|
|
17150192
|
IBIS
|
2 / 7739
|
15
|
(HPO:0005180)
|
Tricuspid regurgitation |
|
|
7447187
|
IBIS
|
20 / 7739
|
16
|
(MedDRA:10043315)
|
Testicular failure |
|
|
4717589
|
IBIS
|
3 / 7739
|
17
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
3993676
|
IBIS
|
28 / 7739
|
18
|
(OMIM)
|
Acrogeric appearance (prominent veins and lack of subcutaneous tissue) |
|
|
19283854
|
IBIS
|
1 / 7739
|
19
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
1488988
|
IBIS
|
156 / 7739
|
20
|
(HPO:0011969)
|
Elevated luteinizing hormone |
|
|
19283854
|
IBIS
|
6 / 7739
|
21
|
(HPO:0000035)
|
Abnormality of the testis |
|
|
4717589
|
IBIS
|
296 / 7739
|
22
|
(HPO:0008232)
|
Elevated follicle stimulating hormone |
|
|
19283854
|
IBIS
|
8 / 7739
|
23
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
17150192
|
IBIS
|
87 / 7739
|
24
|
(HPO:0000938)
|
Osteopenia |
|
|
19283854
|
IBIS
|
138 / 7739
|
25
|
(HPO:0000939)
|
Osteoporosis |
|
|
19283854
|
IBIS
|
129 / 7739
|
26
|
(HPO:0011780)
|
Thyroid hemiagenesis |
|
|
16523513
|
IBIS
|
1 / 7739
|
27
|
(OMIM)
|
Collagenomas |
|
|
7447187
|
IBIS
|
2 / 7739
|
28
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
7447187
|
IBIS
|
147 / 7739
|