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.