|
1
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
12
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
16
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
17
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
18
|
(OMIM)
|
Spasticity may occur |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
21
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|