Variant: rs768324201 

    present in Gene: PHIP
    present in Chromosome: 6
    Position on Chromosome: 79060680
    Alleles of this Variant: G/A;T

rs768324201 in PHIP gene and DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES PMID 29209020 2018 A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

PMID 27900362 2016 De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.