|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0007787)
|
Posterior subcapsular cataract |
|
|
|
|
20 / 7739
|
|
9
|
(OMIM)
|
Cataract, complete |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Cortical punctate or pulverulent opacities (in carrier females) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
12
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
13
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
14
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|