|
1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
11
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
14
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
16
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
17
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
18
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
19
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
20
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|
|
23
|
(OMIM)
|
Cataracts, postnatal |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Saccadic visual pursuit |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Disturbed equilibrium |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Quadrupedal gait |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
29
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
30
|
(OMIM)
|
Small brainstem |
|
|
|
|
4 / 7739
|