|
1
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001712)
|
Left ventricular hypertrophy |
rare [HPO:skoehler]
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0002371)
|
Loss of speech |
rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
13
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
14
|
(OMIM)
|
Pyruvate oxidation defect |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Decreased thiamine pyrophosphate |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Encephalopathic episodes, often associated with infection |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Dizziness, episodic |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Normal cognition |
|
|
|
|
7 / 7739
|
|
19
|
(OMIM)
|
Disturbed gait |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Loss of gait (in some) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
22
|
(OMIM)
|
Abnormal white matter signals, in the basal ganglia or cerebellum seen on brain MRI |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Lactic acidosis, episodic |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Metabolic crises |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Increased urinary alpha-ketoglutaric acid, intermittent |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Decreased serum thiamine pyrophosphate |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|