|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
5
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
6
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0002880)
|
Respiratory difficulties |
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
11
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
12
|
(HPO:0006999)
|
Basal ganglia gliosis |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0007941)
|
Limited extraocular movements |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|