Variant: rs1555301854

present in Gene: SOX5 present in Chromosome: 12 Position on Chromosome: 23734746 Alleles of this Variant: TT/-

rs1555301854 in SOX5 gene and Muscle hypotonia PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 26111154 2015 Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

PMID 23220431 2013 Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 29214085 2017 SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

PMID 22290657 2012 Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.