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intellectual disability, autosomal recessive 47

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 FMN2 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. MRT47 patients show delayed development, with cognition and speech more affected than motor skills.
Mondo Term and Equivalent IDs
MONDO:0014524:  intellectual disability, autosomal recessive 47
UMLS:C4015444: