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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Summary

Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities (NEDHBA) is an autosomal recessive disorder characterized by impaired intellectual development with striking radiologic abnormalities of the lateral ventricles (Fasham et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NBCn2, NCBE, SLC4A10
    Summary: solute carrier family 4 member 10

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