Pontocerebellar hypoplasia type 4
Synonyms: Fatal infantile encephalopathy with olivopontocerebellar hypoplasia | Olivopontocerebellar hypoplasia | PCH4
A severe genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia severe clonus primary hypoventilation leading to an early postnatal death.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Pontocerebellar hypoplasia type 4?
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Genetic Epilepsy Team Australia
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