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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-03-2017
Symbol HADDS
Location 10q26.3
Name hypotonia, ataxia, and delayed development syndrome
Corresponding gene EBF3
Main clinical features
  • neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia, facial weakness, expressive speech disorder, ataxia
  • distinct facial dysmorphism with a long face, tall forehead, high nasal bridge, deep philtrum, straight eyebrows, strabismus, short and broad chin
  • Genetic determination autosomal dominant
    Prevalence 0.1p100 of individuals with unexplained neurodevelopmental disorders.
    Function/system disorder mental retardation
    Type disease
  • EBF3 mutant proteins were less tightly associated with chromatin, and had reduced genome-wide DNA binding and gene-regulatory activity (PMID: 28017373))