|
1
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
2
|
(HPO:0000799)
|
Renal steatosis |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
8
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
10
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
11
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
12
|
(HPO:0005959)
|
Impaired gluconeogenesis |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Fatty infiltration |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Apnea, episodic |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
16
|
(OMIM)
|
Cytosolic phosphoenolpyruvate carboxykinase deficiency |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|