PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs1554333853 in
CDK13 gene and
High, narrow palate
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs779027563 in
CNTNAP1 gene and
High, narrow palate
PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.