Mondo Description Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.

Uniprot Description A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients.

Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TBL1XR1 on chromosome 3q26.32.