Variant: rs1131692261 

    present in Gene: EBF3
    present in Chromosome: 10
    Position on Chromosome: 129877778
    Alleles of this Variant: C/T

rs1131692261 in EBF3 gene and Dysmorphic features 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.

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 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.

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

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.