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Up to: Congenital nervous system disorder · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Autosomal dominant syndromic intellectual disability · CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
Severe intellectual disability-progressive spastic diplegia syndrome
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.
This condition has no sub-types.