Condition: Clinodactyly of the 5th finger


rs1060499548 in ABL1 gene and Clinodactyly of the 5th finger PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1425998598 in BPTF gene and Clinodactyly of the 5th finger PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1554333853 in CDK13 gene and Clinodactyly of the 5th finger PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1057519389 in EBF3 gene and Clinodactyly of the 5th finger PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs786200952 in KAT6A gene and Clinodactyly of the 5th finger PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs1559155954 in OBSL1 gene and Clinodactyly of the 5th finger PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1554297905 in RALA gene and Clinodactyly of the 5th finger PMID 30500825 2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

rs1567368243 in SIN3A gene and Clinodactyly of the 5th finger PMID 30267900 2019 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

rs1334099693 in SOX4 gene and Clinodactyly of the 5th finger PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.