Polymicrogyria with optic nerve hypoplasia

A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.

Also known as: polymicrogyria with optic nerve hypoplasia, CDCBM8, cortical dysplasia, Complex, with Other brain malformations 8, cortical dysplasia, complex, with other brain malformations 8

0 clinical trials for this condition and its sub-types, 0 tagged with Polymicrogyria with optic nerve hypoplasia itself.