1
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
2
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
6
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
7
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
8
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
11
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
12
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
15
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
16
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
18
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
20
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
21
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
22
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
23
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
24
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
25
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
26
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
27
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
28
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
29
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
30
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
31
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
32
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
33
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|
34
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|