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intellectual disability, autosomal recessive 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A 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. Non-syndromic mental retardation patients do not manifest other clinical signs.
Mondo Term and Equivalent IDs
MONDO:0012037:  intellectual disability, autosomal recessive 3
MESH:C563929: 
UMLS:C1838023: