rs1554333853 in
CDK13 gene and
Relative macrocephaly
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs1057519565 in
DEAF1 gene and
Relative macrocephaly
PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
rs797045141 in
HERC1 gene and
Relative macrocephaly
PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
rs80338796 in
RAF1 gene and
Relative macrocephaly
PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.