|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
3
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
4
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
5
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
6
|
(OMIM)
|
Final adult height normal |
|
|
|
|
3 / 7739
|
|
7
|
(OMIM)
|
Hepatic phosphorylase deficiency |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Variable hyperlipidemia |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Variable hypoglycemia |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
No lactic acidosis |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
No hyperuricemia |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|