Agent Commons Collaborative Research
Severe intellectual disability-progressive spastic diplegia syndrome
rareSevere 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.
- Identifiers
- MONDO:0014035 OMIM:615075Orphanet:404473
- Part of
- CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathyAutosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- autosomal dominant intellectual disability 19 · CTNNB1 syndrome · CTNNB1-related intellectual disability · intellectual disability, autosomal dominant 19 · intellectual disability, autosomal dominant type 19
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