1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
16055927
|
IBIS
|
347 / 7739
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
16055927
|
IBIS
|
250 / 7739
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
16055927
|
IBIS
|
238 / 7739
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
16055927
|
IBIS
|
1089 / 7739
|
5
|
(HPO:0001414)
|
Microvesicular hepatic steatosis |
|
|
16055927
|
IBIS
|
9 / 7739
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
22797137
|
IBIS
|
358 / 7739
|
7
|
(HPO:0001635)
|
Congestive heart failure |
|
|
17244376
|
IBIS
|
232 / 7739
|
8
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
16055927
|
IBIS
|
141 / 7739
|
9
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
16055927
|
IBIS
|
84 / 7739
|
10
|
(HPO:0001657)
|
Prolonged QT interval |
|
|
22797137
|
IBIS
|
33 / 7739
|
11
|
(HPO:0002470)
|
Nonprogressive cerebellar ataxia |
|
|
16055927
|
IBIS
|
4 / 7739
|
12
|
(HPO:0003150)
|
Glutaric aciduria |
|
|
22797137
|
IBIS
|
7 / 7739
|
13
|
(HPO:0003344)
|
3-Methylglutaric aciduria |
|
|
16055927
|
IBIS
|
6 / 7739
|
14
|
(HPO:0004856)
|
Normochromic microcytic anemia |
|
|
22797137
|
IBIS
|
1 / 7739
|
15
|
(HPO:0008734)
|
Decreased testicular size |
|
|
16055927
|
IBIS
|
105 / 7739
|
16
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
16055927
|
IBIS
|
113 / 7739
|
17
|
(OMIM)
|
Dilated cardiomyopathy, early onset |
|
|
16055927
|
IBIS
|
1 / 7739
|
18
|
(OMIM)
|
Small atrophic testes |
|
|
16055927
|
IBIS
|
2 / 7739
|
19
|
(OMIM)
|
Mental retardation, mild-borderline, nonprogressive |
|
|
16055927
|
IBIS
|
1 / 7739
|
20
|
(HPO:0003535)
|
3-Methylglutaconic aciduria |
|
|
16055927
|
IBIS
|
10 / 7739
|
21
|
(OMIM)
|
Mildly elevated hepatic enzymes |
|
|
16055927
|
IBIS
|
1 / 7739
|
22
|
(HPO:0001324)
|
Muscle weakness |
|
|
22797137
|
IBIS
|
859 / 7739
|
23
|
(HPO:0012817)
|
Noncompaction cardiomyopathy |
|
|
22797137
|
IBIS
|
2 / 7739
|
24
|
(HPO:0003244)
|
Penile hypospadias |
|
|
16055927
|
IBIS
|
4 / 7739
|
25
|
(HPO:0001270)
|
Motor delay |
|
|
16055927
|
IBIS
|
322 / 7739
|