|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001105)
|
Retinal atrophy |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
rare [HPO:skoehler]
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
|
15
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0030329)
|
Retinal thinning |
|
|
|
|
3 / 7739
|