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intellectual disability, autosomal recessive 45

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 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. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips.
Mondo Term and Equivalent IDs
MONDO:0014430:  intellectual disability, autosomal recessive 45
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found