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GTR Home > Conditions/Phenotypes > Neurodegeneration and seizures due to copper transport defect

Neurodegeneration and seizures due to copper transport defect

Summary

Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy (summary by Dame et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: COPT1, CTR1, NSCT, SLC31A1
    Summary: solute carrier family 31 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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