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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-09-2021
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
    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))