Infantile choroidocerebral calcification syndrome

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Infantile choroidocerebral calcification syndrome

A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus increased deep tendon reflexes and foot deformities among others. There have been no further descriptions in the literature since 1993.

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: // Data version October 2023.

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