|
1
|
(HPO:0001137)
|
Alternating esotropia |
|
|
|
|
4 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
7
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
8
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
9
|
(HPO:0008150)
|
Elevated serum transaminases during infections |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|