|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0000711)
|
Restlessness |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
12
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
13
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
14
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
16
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
18
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
19
|
(OMIM)
|
MRI shows mild frontotemporal atrophy |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased activity of 2-methyl-3-hydroxybutyryl Co-A dehydrogenase |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Increased urinary 2-methyl-3 hydroxybutyrate |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Increased urinary tiglyglycine |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
24
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
25
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|