Variant: rs1057519389 

    present in Gene: EBF3
    present in Chromosome: 10
    Position on Chromosome: 129957324
    Alleles of this Variant: C/A;G;T

rs1057519389 in EBF3 gene and Abnormal palmar creases PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Abnormality of facial musculature PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Aplasia/Hypoplasia of the cerebellar vermis PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Apraxias PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Ataxia PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Cerebellar Ataxia PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

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

rs1057519389 in EBF3 gene and Deglutition Disorders PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Dysarthria PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Expressive language delay PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Generalized hypotonia PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Global developmental delay PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Hypoplastic feet PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Impaired pain sensation PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Movement Disorders PMID 28487885 2017 Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

PMID 19627984 2009 Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.

PMID 28017373 2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

PMID 28017370 2017 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

PMID 20300201 2010 Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

PMID 29162653 2017 De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

PMID 29062322 2017 Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

rs1057519389 in EBF3 gene and Muscle hypotonia PMID 20300201 2010 Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

PMID 19627984 2009 Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.

PMID 29062322 2017 Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

PMID 28487885 2017 Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

PMID 29162653 2017 De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

PMID 28017370 2017 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

PMID 28017373 2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

rs1057519389 in EBF3 gene and Oligohydramnios PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Overfolding of the superior helices PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Pierre Robin Syndrome PMID 28017370 2017 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Poor school performance PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Small labia majora PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Stereotypic Movement Disorder PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Strabismus PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Torticollis PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1057519389 in EBF3 gene and Triangular face PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.