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intellectual disability, autosomal dominant 6

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B 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. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1.
Mondo Term and Equivalent IDs
MONDO:0013509:  intellectual disability, autosomal dominant 6
UMLS:C3151411: