A: The variant NC_000020.11:g.10413085_10413086del in gene MKKS is classified as 'Pathogenic' for McKusick-Kaufman_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473. Review status: criteria provided, single submitter.