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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
Choroido-cerebral calcification syndrome with retardation
related
choroid plexus calcification and mental retardation
related
choroid plexus calcification with intellectual disability
related
choroid plexus calcification with mental retardation
related