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.
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