|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
17304052; 15505379
|
IBIS
|
990 / 7739
|
|
2
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
9889013
|
IBIS
|
141 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
|
|
9889013
|
IBIS
|
289 / 7739
|
|
4
|
(HPO:0003234)
|
Decreased plasma carnitine |
|
|
9889013
|
IBIS
|
9 / 7739
|
|
5
|
(HPO:0001640)
|
Cardiomegaly |
|
|
9889013
|
IBIS
|
81 / 7739
|
|
6
|
(HPO:0001631)
|
Atria septal defect |
|
|
9889013
|
IBIS
|
274 / 7739
|
|
7
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
17304052; 15505379
|
IBIS
|
10 / 7739
|
|
8
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
17304052; 16857760
|
IBIS
|
197 / 7739
|
|
9
|
(HPO:0004969)
|
Peripheral pulmonary artery stenosis |
|
|
17304052; 16857760
|
IBIS
|
9 / 7739
|
|
10
|
(HPO:0002013)
|
Vomiting |
|
|
17304052; 12736383
|
IBIS
|
191 / 7739
|
|
11
|
(HPO:0001944)
|
Dehydration |
|
|
17304052
|
IBIS
|
59 / 7739
|
|
12
|
(HPO:0002099)
|
Asthma |
|
|
12736383
|
IBIS
|
62 / 7739
|
|
13
|
(HPO:0012330)
|
Pyelonephritis |
|
|
12736383
|
IBIS
|
7 / 7739
|
|
14
|
(HPO:0003265)
|
Neonatal hyperbilirubinemia |
|
|
12736383
|
IBIS
|
6 / 7739
|