|
1
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
6
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0007281)
|
Developmental stagnation |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0012043)
|
Pendular nystagmus |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
14
|
(OMIM)
|
Choreoathetosis of the face, trunk, extremities |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Progressive, symmetric degeneration of the caudate and putamen |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Occasional degeneration of the globus pallidus |
|
|
|
|
1 / 7739
|