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severe intellectual disability-progressive spastic diplegia syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD19 features include severe intellectual disability with absent or very limited speech, microcephaly, and spasticity which severely impaired the ability to walk.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1.
Mondo Term and Equivalent IDs
MONDO:0014035:  severe intellectual disability-progressive spastic diplegia syndrome
GARD:0003505: 
Orphanet:404473: 
UMLS:C3554449: