|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
5
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
7
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
8
|
(HPO:0001946)
|
Ketosis |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
10
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
11
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
12
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
13
|
(HPO:0003162)
|
Fasting hypoglycemia |
|
|
|
|
8 / 7739
|
|
14
|
(OMIM)
|
Growth retardation in childhood |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Final adult height normal |
|
|
|
|
3 / 7739
|
|
16
|
(MedDRA:10016642)
|
Fibrosis |
|
|
|
|
9 / 7739
|
|
17
|
(OMIM)
|
Hepatic glycogen accumulation |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
20
|
(OMIM)
|
Mildly delayed motor development |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Fasting ketosis |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Decreased PHK activity in liver |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Moderately decreased to normal PHK activity in skeletal muscle |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|