|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
10
|
(HPO:0002045)
|
Hypothermia |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
12
|
(HPO:0005949)
|
Apneic episodes in infancy |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(OMIM)
|
Global developmental delay if untreated |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increased urinary 2-methylbutyrylglycine |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Increased plasma 2-methylbutyrylcarnitine |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Decreased short/branched-chain acyl-CoA dehydrogenase protein levels and enzyme activity |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|