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intellectual disability, autosomal recessive 44

Disease Summary
Associated Targets (1)
Tdark

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 METTL23 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. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features.
Mondo Term and Equivalent IDs
MONDO:0014409:  intellectual disability, autosomal recessive 44
UMLS:C4014745: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found