|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
7
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
8
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
9
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
10
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
11
|
(OMIM)
|
Thickened cortex |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Absence of the corpus callosum |
|
|
|
|
5 / 7739
|
|
13
|
(OMIM)
|
Hypoplastic brainstem with loss of demarcation at the pontomedullary junction |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Colpocephaly |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
17
|
(HPO:0030048)
|
Colpocephaly |
|
|
|
|
4 / 7739
|