|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
7
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
11
|
(HPO:0001993)
|
Ketoacidosis |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
13
|
(HPO:0003108)
|
Hyperglycinuria |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0011695)
|
Cerebellar hemorrhage |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
16
|
(OMIM)
|
Feeding refusal, especially aversion to protein |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Isovalericacidemia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Isovalericaciduria |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Isovalerylglycinuria |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Deficiency of mitochondrial isovaleryl-CoA dehydrogenase in fibroblasts |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|