|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0001302)
|
Pachygyria |
rare [HPO:skoehler]
|
|
|
|
60 / 7739
|
|
9
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
10
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
11
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0001946)
|
Ketosis |
|
|
|
|
17 / 7739
|
|
13
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
14
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
15
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
16
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0012450)
|
Chronic constipation |
|
|
|
|
10 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(OMIM)
|
Frontotemporal atrophy |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
White matter changes on brain imaging (less common) |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0007227)
|
Macrogyria |
|
|
|
|
9 / 7739
|
|
24
|
(OMIM)
|
Nodular heterotopia |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Abnormal urinary compounds |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Mitochondrial malonyl-CoA decarboxylase activity in fibroblasts is very low (as low as 4%) |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|