Autosomal recessive frontotemporal pachygyria

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A cerebral malformation characterized by symmetric bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay moderate intellectual disability normal or slightly decreased muscle tone and deep-tendon reflexes telecanthus or hypertelorism.

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 Data version June 2024

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Autosomal recessive frontotemporal pachygyria?

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