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intellectual disability, autosomal dominant 11

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23.
Mondo Term and Equivalent IDs
MONDO:0013658:  intellectual disability, autosomal dominant 11
UMLS:C3280285: