A: The variant NC_000019.10:g.47483212CT[2] in gene KPTN is classified as 'Pathogenic' for Macrocephaly-developmental_delay_syndrome. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612. Review status: criteria provided, single submitter.