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GENATLAS PHENOTYPE

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
	neurology
Type	disease

Remark(s)

EBF3 mutant proteins were less tightly associated with chromatin, and had reduced genome-wide DNA binding and gene-regulatory activity (PMID: 28017373))