1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
2
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
3
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
4
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
6
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
11
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
12
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
13
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
14
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
15
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
16
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
17
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
18
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
19
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
20
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
22
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
23
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
24
|
(OMIM)
|
Oculogyric eye movements |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Hypomyelination of the brain white matter, diffuse |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Gait impairment |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Opisthotonic posturing |
|
|
|
|
4 / 7739
|
28
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
29
|
(OMIM)
|
Absence or atrophy of the putamen |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Small caudate |
|
|
|
|
1 / 7739
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
33
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
34
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
35
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|