Variant: rs1555611722

present in Gene: CHD3 present in Chromosome: 17 Position on Chromosome: 7900706 Alleles of this Variant: C/T

rs1555611722 in CHD3 gene and SNIJDERS BLOK-CAMPEAU SYNDROME PMID 30397230 2018 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

PMID 29463886 2019 A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.