|
1
|
(HPO:0000609)
|
Optic nerve hypoplasia |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
|
2
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0000646)
|
Amblyopia |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0000712)
|
Emotional lability |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
|
|
15 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
rare [HPO:skoehler]
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0001310)
|
Dysmetria |
rare [HPO:skoehler]
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
10
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
12
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
13
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
14
|
(OMIM)
|
Brain MRI shows cerebellar atrophy |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|