|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
3
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
14
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
15
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
17
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
20
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
21
|
(HPO:0002919)
|
Ketonuria |
|
|
|
|
18 / 7739
|
|
22
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
23
|
(HPO:0004911)
|
Episodic metabolic acidosis |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0006573)
|
Acute hepatic steatosis |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0008281)
|
Acute hyperammonemia |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|