|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
6424438
|
IBIS
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
9585612
|
IBIS
|
853 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
6424438
|
IBIS
|
322 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
9585612
|
IBIS
|
1245 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001943)
|
Hypoglycemia |
|
|
9585612
|
IBIS
|
131 / 7739
|
|
7
|
(HPO:0002049)
|
Proximal renal tubular acidosis |
|
|
6790846
|
IBIS
|
8 / 7739
|
|
8
|
(HPO:0002151)
|
Increased serum lactate |
|
|
826106
|
IBIS
|
92 / 7739
|
|
9
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
10
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
|
|
6424438
|
IBIS
|
467 / 7739
|
|
12
|
(HPO:0003128)
|
Lactic acidosis |
|
|
826106
|
IBIS
|
116 / 7739
|
|
13
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
6790846
|
IBIS
|
19 / 7739
|
|
14
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
6790846
|
IBIS
|
18 / 7739
|
|
15
|
(HPO:0006970)
|
Periventricular leukomalacia |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0007190)
|
Neuronal loss in the cerebral cortex |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
9585612
|
IBIS
|
482 / 7739
|
|
18
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
19
|
(OMIM)
|
Cystic lesions consistent with Leigh syndrome (256000) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Poor myelination |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Subcortical leukodystrophy |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0003209)
|
Decreased pyruvate carboxylase activity |
|
|
6424438
|
IBIS
|
5 / 7739
|
|
23
|
(OMIM)
|
Increased serum ammonia |
|
|
|
|
5 / 7739
|
|
24
|
(OMIM)
|
Increased serum citrulline (Group B) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Increased serum lysine (Group B) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (Group B)) |
|
|
|
|
1 / 7739
|
|
27
|
(MedDRA:10057977)
|
Lactate pyruvate ratio increased |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Increased acetoacetate: beta-hydroxybutyrate ratio (Group B) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Immunoreactive PC protein |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Presence of PC mRNA |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
A subset of Group B patients have absence of PC protein and mRNA |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
6424438
|
IBIS
|
81 / 7739
|
|
33
|
(HPO:0001987)
|
Hyperammonemia |
|
|
6424438
|
IBIS
|
50 / 7739
|
|
34
|
(HPO:0011965)
|
Abnormality of citrulline metabolism |
|
|
6424438
|
IBIS
|
1 / 7739
|
|
35
|
(HPO:0002161)
|
Hyperlysinemia |
|
|
6424438
|
IBIS
|
7 / 7739
|
|
36
|
(HPO:0006965)
|
Acute necrotizing encephalopathy |
|
|
6402999
|
IBIS
|
2 / 7739
|
|
37
|
(HPO:0002098)
|
Respiratory distress |
|
|
9585612
|
IBIS
|
75 / 7739
|
|
38
|
(HPO:0002090)
|
Pneumonia |
|
|
7503391
|
IBIS
|
59 / 7739
|
|
39
|
(HPO:0001635)
|
Congestive heart failure |
|
|
7503391
|
IBIS
|
232 / 7739
|
|
40
|
(HPO:0000083)
|
Renal insufficiency |
|
|
7503391
|
IBIS
|
232 / 7739
|
|
41
|
(HPO:0000256)
|
Macrocephaly |
|
|
10323732
|
IBIS
|
298 / 7739
|
|
42
|
(HPO:0004911)
|
Episodic metabolic acidosis |
|
|
1909777
|
IBIS
|
5 / 7739
|
|
43
|
(HPO:0002789)
|
Tachypnea |
|
|
16325442
|
IBIS
|
48 / 7739
|
|
44
|
(HPO:0001260)
|
Dysarthria |
|
|
16325442
|
IBIS
|
329 / 7739
|
|
45
|
(HPO:0010526)
|
Dysgraphia |
|
|
16325442
|
IBIS
|
3 / 7739
|
|
46
|
(HPO:0003131)
|
Cystinuria |
|
|
6422151
|
IBIS
|
6 / 7739
|
|
47
|
(HPO:0008358)
|
Hyperprolinemia |
|
|
1909777
|
IBIS
|
5 / 7739
|