rs1554333853 in
CDK13 gene and
Short nose
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
Short nose
PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs1057519642 in
SMCHD1 gene and
Short nose
PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.