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intellectual disability, autosomal dominant 48

Disease Summary
Associated Targets (1)
Tbio

1


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. MRD48 patients manifest global developmental delay and moderate to severe intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0030913:  intellectual disability, autosomal dominant 48
EFO:0009156: 
Orphanet:500159: 
UMLS:CN580791: