Infantile choroidocerebral calcification syndrome

This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.

Also known as: Choroido-cerebral calcification syndrome with retardation, choroid plexus calcification and intellectual disability, choroid plexus calcification and mental retardation, choroid plexus calcification with intellectual disability, choroid plexus calcification with mental retardation

0 clinical trials for this condition and its sub-types, 0 tagged with Infantile choroidocerebral calcification syndrome itself.