Variant: rs779003155 

    present in Gene: EBF3
    present in Chromosome: 10
    Position on Chromosome: 129877779
    Alleles of this Variant: G/A;T

rs779003155 in EBF3 gene and HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT 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.

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