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intellectual disability, autosomal dominant 39

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 MYT1L 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. MRD39 patients show delayed psychomotor development and autistic features.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.
Mondo Term and Equivalent IDs
MONDO:0014678:  intellectual disability, autosomal dominant 39
UMLS:C4225296: