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intellectual disability, autosomal dominant 8

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 GRIN1 gene.
Uniprot Description An autosomal dominant neurodevelopmental disorder characterized by severe mental retardation and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3.
Mondo Term and Equivalent IDs
MONDO:0013655:  intellectual disability, autosomal dominant 8
UMLS:C3280282: