|
1
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
25658047
|
IBIS
|
358 / 7739
|
|
2
|
(HPO:0001662)
|
Bradycardia |
|
|
25658047
|
IBIS
|
41 / 7739
|
|
3
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
25658047
|
IBIS
|
137 / 7739
|
|
4
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
25658047
|
IBIS
|
76 / 7739
|
|
5
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
25658047
|
IBIS
|
228 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
25658047
|
IBIS
|
410 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
|
|
25658047
|
IBIS
|
301 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
|
|
25658047
|
IBIS
|
705 / 7739
|
|
9
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
25658047
|
IBIS
|
101 / 7739
|
|
10
|
(HPO:0003647)
|
Electron transfer flavoprotein-ubiquinone oxidoreductase defect |
|
|
25658047
|
IBIS
|
2 / 7739
|
|
11
|
(MedDRA:10053839)
|
Ubiquinone decreased |
|
|
25658047
|
IBIS
|
2 / 7739
|
|
12
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
25658047
|
IBIS
|
42 / 7739
|
|
13
|
(HPO:0011343)
|
Moderate global developmental delay |
|
|
25658047
|
IBIS
|
5 / 7739
|
|
14
|
(OMIM)
|
Loss of independent ambulation |
|
|
25658047
|
IBIS
|
5 / 7739
|
|
15
|
(HPO:0006915)
|
Inability to walk by childhood/adolescence |
|
|
25658047
|
IBIS
|
2 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
|
|
25658047
|
IBIS
|
1245 / 7739
|
|
17
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
25658047
|
IBIS
|
114 / 7739
|
|
18
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
25658047
|
IBIS
|
27 / 7739
|
|
19
|
(HPO:0002151)
|
Increased serum lactate |
|
|
25658047
|
IBIS
|
92 / 7739
|
|
20
|
(HPO:0040144)
|
L-2-hydroxyglutaric aciduria |
|
|
25658047
|
IBIS
|
3 / 7739
|