Condition: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
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.