1
|
(HPO:0000252)
|
Microcephaly |
|
|
17160893
|
IBIS
|
832 / 7739
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
17160893
|
IBIS
|
555 / 7739
|
3
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
17160893
|
IBIS
|
81 / 7739
|
4
|
(HPO:0001987)
|
Hyperammonemia |
|
|
17160893
|
IBIS
|
50 / 7739
|
5
|
(HPO:0002126)
|
Polymicrogyria |
|
|
17160893
|
IBIS
|
64 / 7739
|
6
|
(HPO:0002179)
|
Opisthotonus |
|
|
17160893
|
IBIS
|
35 / 7739
|
7
|
(HPO:0002240)
|
Hepatomegaly |
|
|
17160893
|
IBIS
|
467 / 7739
|
8
|
(HPO:0002376)
|
Developmental regression |
|
|
17160893
|
IBIS
|
74 / 7739
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
17160893
|
IBIS
|
116 / 7739
|
10
|
(HPO:0001522)
|
Death in infancy |
|
|
17160893
|
IBIS
|
275 / 7739
|
11
|
(HPO:0002098)
|
Respiratory distress |
|
|
17160893
|
IBIS
|
75 / 7739
|
12
|
(HPO:0001276)
|
Hypertonia |
|
|
17160893
|
IBIS
|
317 / 7739
|
13
|
(OMIM)
|
Mildly elevated transaminases |
|
|
17160893
|
IBIS
|
2 / 7739
|
14
|
(OMIM)
|
Elevated serum glutamic oxaloacetic transaminase (SGOT) |
|
|
17160893
|
IBIS
|
2 / 7739
|
15
|
(OMIM)
|
Elevated serum glutamic pyruvic transaminase (SGPT) |
|
|
17160893
|
IBIS
|
2 / 7739
|
16
|
(OMIM)
|
Myocardial ischemia |
|
|
17160893
|
IBIS
|
2 / 7739
|
17
|
(HPO:0002013)
|
Vomiting |
|
|
17160893
|
IBIS
|
191 / 7739
|
18
|
(HPO:0001254)
|
Lethargy |
|
|
17160893
|
IBIS
|
104 / 7739
|
19
|
(HPO:0000980)
|
Pallor |
|
|
17160893
|
IBIS
|
52 / 7739
|
20
|
(HPO:0001063)
|
Acrocyanosis |
|
|
17160893
|
IBIS
|
56 / 7739
|
21
|
(HPO:0008935)
|
Generalized neonatal hypotonia |
|
|
17160893
|
IBIS
|
9 / 7739
|
22
|
(HPO:0001257)
|
Spasticity |
|
|
17160893
|
IBIS
|
251 / 7739
|
23
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
17160893
|
IBIS
|
73 / 7739
|
24
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
|
|
17160893
|
IBIS
|
13 / 7739
|
25
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
17160893
|
IBIS
|
31 / 7739
|
26
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
17160893
|
IBIS
|
35 / 7739
|