Variant: rs1555912049 

    present in Gene: PTCHD1
    present in Chromosome: X
    Position on Chromosome: 23379829
    Alleles of this Variant: TGCACAGCAAAGAC/-

rs1555912049 in PTCHD1 gene and Movement Disorders PMID 25782667 2015 Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

PMID 25131214 2015 Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

PMID 20844286 2010 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

PMID 23871722 2013 XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

PMID 21091464 2011 Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

rs1555912049 in PTCHD1 gene and Muscle hypotonia PMID 23871722 2013 XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

PMID 25131214 2015 Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

PMID 21091464 2011 Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

PMID 20844286 2010 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

PMID 25782667 2015 Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.