Severe intellectual disability-progressive spastic diplegia syndrome

MONDO:0014035

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.

Also known as: CTNNB1 syndrome, MRD19, autosomal dominant intellectual disability 19, intellectual disability, autosomal dominant type 19, mental retardation, autosomal dominant type 19, neurodevelopmental disorder with spastic diplegia and visual defects, severe intellectual disability-progressive spastic diplegia syndrome, CTNNB1-related intellectual disability

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Intellectual disability (133) Syndromic disease (25) Human disease (14) Developmental defect during embryogenesis (8) Hereditary neurological disease (6) CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy (3)

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Severe intellectual disability-progressive spastic diplegia syndrome

Broader categories

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