|
1
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
2
|
(HPO:0003457)
|
EMG abnormality |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0001396)
|
Cholestasis |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
5
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
7
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
8
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
|
|
9888879
|
IBIS
|
18 / 7739
|
|
9
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|