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intellectual disability, autosomal recessive 57

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 MBOAT7 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. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features.
Mondo Term and Equivalent IDs
MONDO:0014962:  intellectual disability, autosomal recessive 57
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found