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.