|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
4
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
5
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
7
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
8
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
9
|
(HPO:0002281)
|
Gray matter heterotopias |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0002700)
|
Large foramen magnum |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
13
|
(HPO:0100702)
|
Arachnoid cyst |
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
|
|
32 / 7739
|
|
15
|
(OMIM)
|
Hearing loss, sensorineural, severe to profound |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Normal psychomotor development in most |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
18
|
(OMIM)
|
Brain MRI shows hypoplasia of the corpus callosum |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0006989)
|
Dysplastic corpus callosum |
|
|
|
|
7 / 7739
|
|
20
|
(OMIM)
|
Cerebellar hypoplasia due to enlarged foramen magnum |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Focal cerebellar dysplasia |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Obstruction of the foramen of Monro (variable) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Subcortical nodular grey matter heterotopia |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|