polymicrogyria with optic nerve hypoplasia
polymicrogyria with optic nerve hypoplasia
A hereditary condition (OMIM:613180) characterised by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum, and colpocephaly.Molecular pathology
Defects in TUBB2B, which encodes a beta tubulin, cause PMGONH.