Infantile choroidocerebral calcification syndrome

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Alternate names

Choroido-cerebral calcification syndrome with retardation

Definition

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.

NIH genetic and rare disease info

Infantile choroidocerebral calcification syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Infantile choroidocerebral calcification syndrome

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Infantile choroidocerebral calcification syndrome

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