Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
3
 (HPO:0002084) Encephalocele Frequent [Orphanet] 70 / 7739
4
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
5
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
8
 (HPO:0100842) Septo-optic dysplasia Frequent [Orphanet] 8 / 7739
9
 (HPO:0001339) Lissencephaly 30 / 7739
10
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
11
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
12
 (HPO:0001360) Holoprosencephaly 29 / 7739
13
 (HPO:0002139) Arrhinencephaly 13 / 7739
14
 (HPO:0000568) Microphthalmia 183 / 7739
15
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
16
 (HPO:0001331) Absent septum pellucidum 16 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0000384) Preauricular skin tag 62 / 7739
19
 (HPO:0000601) Hypotelorism 83 / 7739
20
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
21
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
22
 (HPO:0007330) Frontal encephalocele 3 / 7739
23
 (OMIM) Frontal bone protrusion 1 / 7739
24
 (OMIM) Absent medullary pyramids 1 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
26
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
27
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
28
 (HPO:0012443) Abnormality of brain morphology Frequent [Orphanet] 45 / 7739
29
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739