Condition: Long narrow head


rs1554333853 in CDK13 gene and Long narrow head 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 Long narrow head PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs1561873941 in CUL7 gene and Long narrow head PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Long narrow head PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1559155954 in OBSL1 gene and Long narrow head PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Long narrow head PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.