Severe intellectual disability-progressive spastic diplegia syndrome
Alternate names
Intellectual disability, autosomal dominant 19; CTNNB1-related intellectual disability; CTNNB1 syndrome
Definition
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability .
Cause
It is caused by changes (mutations) in the CTNNB1 gene.
Inheritance
It is inherited in an autosomal dominant fashion.
Signs and symptoms
Signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); [[spasticity] ]; and/or skin, hair and mild facial anomalies.
Diagnosis
Treatment
NIH genetic and rare disease info
Severe intellectual disability-progressive spastic diplegia syndrome is a rare disease.
Resources
Frequently asked questions
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