|
1
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
5
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
6
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
12
|
(HPO:0009051)
|
Increased muscle glycogen content |
|
|
|
|
8 / 7739
|