Variant: rs373804633 

    present in Gene: RBBP8
    present in Chromosome: 18
    Position on Chromosome: 22968855
    Alleles of this Variant: C/G;T

rs373804633 in RBBP8 gene and SECKEL SYNDROME 2 PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

PMID 21998596 2011 CtIP Mutations Cause Seckel and Jawad Syndromes.