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intellectual disability, autosomal recessive 54

Disease Summary
Associated Targets (1)
Tchem

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 TNIK 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. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity.
Mondo Term and Equivalent IDs
MONDO:0014876:  intellectual disability, autosomal recessive 54
UMLS:C4310755: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found