|
1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
10
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
11
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0002191)
|
Progressive spasticity |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
14
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
15
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
16
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
17
|
(OMIM)
|
Shallow breathing |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(OMIM)
|
No head control |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
MRI shows no normal myelination |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Leukodystrophy, hypomyelinating |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Intermittent increase of urinary ethylmalonic acid |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Serum lactate may be increased during encephalopathic exacerbations |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|