|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
22152680
|
IBIS
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
22152680
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
22152680
|
IBIS
|
322 / 7739
|
|
4
|
(HPO:0001298)
|
Encephalopathy |
|
|
22152680
|
IBIS
|
72 / 7739
|
|
5
|
(HPO:0001371)
|
Flexion contracture |
|
|
22152680
|
IBIS
|
220 / 7739
|
|
6
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
22152680
|
IBIS
|
137 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
22152680
|
IBIS
|
410 / 7739
|
|
8
|
(HPO:0002104)
|
Apnea |
|
|
22152680
|
IBIS
|
106 / 7739
|
|
9
|
(HPO:0002151)
|
Increased serum lactate |
|
|
22152680
|
IBIS
|
92 / 7739
|
|
10
|
(HPO:0002360)
|
Sleep disturbance |
|
|
22152680
|
IBIS
|
113 / 7739
|
|
11
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
22152680
|
IBIS
|
54 / 7739
|
|
12
|
(HPO:0003128)
|
Lactic acidosis |
|
|
22152680
|
IBIS
|
116 / 7739
|
|
13
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
22152680
|
IBIS
|
46 / 7739
|
|
14
|
(HPO:0011968)
|
Feeding difficulties |
|
|
22152680
|
IBIS
|
240 / 7739
|
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
22152680
|
IBIS
|
990 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
22152680
|
IBIS
|
482 / 7739
|
|
17
|
(OMIM)
|
Biopsy shows defects in pyruvate oxidation |
|
|
22152680
|
IBIS
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased lipoic acid |
|
|
22152680
|
IBIS
|
1 / 7739
|
|
19
|
(HPO:0002181)
|
Cerebral edema |
|
|
22152680
|
IBIS
|
19 / 7739
|
|
20
|
(HPO:0001249)
|
Intellectual disability |
|
|
22152680
|
IBIS
|
1089 / 7739
|
|
21
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
22152680
|
IBIS
|
29 / 7739
|
|
22
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
22152680
|
IBIS
|
153 / 7739
|
|
23
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
22152680
|
IBIS
|
28 / 7739
|
|
24
|
(HPO:0003819)
|
Death in childhood |
|
|
22152680
|
IBIS
|
42 / 7739
|
|
25
|
(HPO:0002154)
|
Hyperglycinemia |
|
|
22152680
|
IBIS
|
12 / 7739
|
|
26
|
(HPO:0002928)
|
Decreased activity of the pyruvate dehydrogenase complex |
|
|
22152680
|
IBIS
|
10 / 7739
|
|
27
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
22152680
|
IBIS
|
35 / 7739
|
|
28
|
(HPO:0008314)
|
Decreased activity of mitochondrial complex II |
|
|
22152680
|
IBIS
|
7 / 7739
|
|
29
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
22152680
|
IBIS
|
22 / 7739
|
|
30
|
(HPO:0003150)
|
Glutaric aciduria |
|
|
22152680
|
IBIS
|
7 / 7739
|
|
31
|
(HPO:0004372)
|
Reduced consciousness/confusion |
|
|
22152680
|
IBIS
|
73 / 7739
|
|
32
|
(HPO:0012087)
|
Abnormal mitochondrial shape |
|
|
22152680
|
IBIS
|
8 / 7739
|
|
33
|
(MedDRA:10003830)
|
Automatism |
|
|
22152680
|
IBIS
|
4 / 7739
|
|
34
|
(HPO:0002033)
|
Poor suck |
|
|
22152680
|
IBIS
|
37 / 7739
|
|
35
|
(HPO:0001262)
|
Somnolence |
|
|
22152680
|
IBIS
|
20 / 7739
|
|
36
|
(HPO:0002113)
|
Pulmonary infiltrates |
|
|
22152680
|
IBIS
|
36 / 7739
|
|
37
|
(HPO:0000238)
|
Hydrocephalus |
|
|
22152680
|
IBIS
|
278 / 7739
|
|
38
|
(HPO:0000711)
|
Restlessness |
|
|
22152680
|
IBIS
|
18 / 7739
|
|
39
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
22152680
|
IBIS
|
81 / 7739
|