|
1
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
7
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0001733)
|
Pancreatitis |
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0001946)
|
Ketosis |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
13
|
(HPO:0002181)
|
Cerebral edema |
|
|
|
|
19 / 7739
|
|
14
|
(HPO:0008344)
|
Elevated plasma branched chain amino acids |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
16
|
(OMIM)
|
Mental retardation if untreated |
|
|
|
|
5 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
18
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
19
|
(OMIM)
|
Brain MRI shows diffusion abnormalities |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
White matter signal abnormalities in various brain regions |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Life-threatening metabolic decompensation |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Lactic acidosis in E3-deficiency |
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Maple syrup urine odor |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate) |
|
|
|
|
3 / 7739
|
|
25
|
(OMIM)
|
Elevated plasma alloisoleucine |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Positive urine DNPH screening test |
|
|
|
|
3 / 7739
|