Condition: High, narrow palate


rs1557055405 in ABCD1 gene and High, narrow palate PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs180177035 in BRAF gene and High, narrow palate PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

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.