Condition: SNIJDERS BLOK-CAMPEAU SYNDROME


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.

rs1567863732 in SCARNA21;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.