Polymicrogyria with optic nerve hypoplasia

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Polymicrogyria with optic nerve hypoplasia

Polymicrogyria with optic nerve hypoplasia is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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