|
1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
6
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
7
|
(OMIM)
|
Severe brain damage |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Urinary excretion of 2-ethyl-3-keto-hexanoic acid |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Urinary excretion of 2-ethyl-hexanedioic acid |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased acetyl-CoA carboxylase activity |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|