Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
7q22.1
Lissencephaly ('smooth brain') is a severe disorder of brain development in which neuronal migration is impaired, leading to a thickened cerebral cortex in which the normally folded contour is simplified and smooth. Lissencephaly-2 (LIS2) is associated with severe abnormalities of the cerebellum and hippocampus. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 257320.G.1 | Saudi Arabia | Yes | Yes | Primary congenital glaucoma; Lissencepha... Primary congenital glaucoma; Lissencephaly; Cerebellar hypoplasia  | NM_005045.4:c.3711+2T>C | Homozygous | Autosomal, Recessive | Alsaif et al. 2019 | Family with unknown ... |