|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
9
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
10
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
11
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
14
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
15
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
16
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
21
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
22
|
(OMIM)
|
Hyperkinetic movements |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
25
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
|
|
14 / 7739
|