Porencephaly-microcephaly-bilateral congenital cataract syndrome

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A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

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 June 2024

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Porencephaly-microcephaly-bilateral congenital cataract syndrome?

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