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Rafiq syndrome

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 MAN1B1 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.
Mondo Term and Equivalent IDs
MONDO:0013624:  Rafiq syndrome
UMLS:C3280127: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found