Aprosencephaly cerebellar dysgenesis

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A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations for example of the hands and feet have been described in addition.

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 May 2024

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Aprosencephaly cerebellar dysgenesis?

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