A: The variant NC_000019.10:g.40502820del in gene SPTBN4 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_hypotonia,_neuropathy,_and_deafness. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0060496,MedGen:C4479603,OMIM:617519. Review status: criteria provided, single submitter.