|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 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:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
12
|
(HPO:0004911)
|
Episodic metabolic acidosis |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0008281)
|
Acute hyperammonemia |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Apnea, acute |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Macro- and microvesicular steatosis, acute |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
18
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
19
|
(OMIM)
|
Neurologic sequelae not always present |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Metabolic decompensation precipitated by illness |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Hypoglycemia, acute |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Urinary excretion of 3-methylcrotonylglycine, chronic |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Urinary excretion of 3-hydroxyisovaleric acid, chronic |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Secondary decrease of plasma free carnitine |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Ketonuria, acute |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Decreased activity of 3-methylcrotonyl-CoA carboxylase (less than 2%) |
|
|
|
|
1 / 7739
|