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GENATLAS PHENOTYPE

last update : 15-09-2021

Symbol	NEDSBA
Location	4q33
Name	neurodevelopmental disorder with seizures and brain abnormalities
Corresponding gene	CLCN3
Main clinical features	characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging . also pigmentary retinopathy with poor visual fixation and spasticity
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
	mental retardation
Type	disease

Remark(s)

. homozygous early frameshift variant truncates the CLCN3 protein before the first transmembrane helix; it therefore predicts both a complete loss of ion transport and a lack of CLCN3 protein interactions such as the formation of heterodimers with ClCN4 in brain (PMID: 34186028))