|
1
|
(HPO:0000571)
|
Hypometric saccades |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001257)
|
Spasticity |
rare [HPO:skoehler]
|
|
|
|
251 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
13
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
14
|
(HPO:0008003)
|
Jerky ocular pursuit movements |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
16
|
(OMIM)
|
Cognitive impairment, mild to moderate |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
19
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|