|
1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
2
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
3
|
(OMIM)
|
Final adult height normal |
|
|
|
|
3 / 7739
|
|
4
|
(OMIM)
|
Liver histology reveals glycogen-distended hepatocytes |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Delayed motor development, mild |
|
|
|
|
2 / 7739
|
|
6
|
(OMIM)
|
Liver phosphorylase kinase (PHK) deficiency |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Phosphorylase kinase normal in muscle |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Variable hypoglycemia |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Mild elevation of transaminases |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Mild elevation of cholesterol |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Mild elevation of triglycerides |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Fasting ketosis |
|
|
|
|
2 / 7739
|