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intellectual disability, autosomal recessive 50

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 EDC3 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. MRT50 patients show mild intellectual disability and microcephaly.
Mondo Term and Equivalent IDs
MONDO:0014649:  intellectual disability, autosomal recessive 50