|
1
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
2
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
7
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
9
|
(HPO:0002451)
|
Limb dystonia |
|
|
|
|
16 / 7739
|
|
10
|
(HPO:0004373)
|
Focal dystonia |
|
|
|
|
9 / 7739
|
|
11
|
(OMIM)
|
Long, triangular face |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Focal dystonia, usually of the hands |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Lower limb dystonia |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|