A: The variant NC_000021.9:g.46431687_46431688del in gene PCNT is classified as 'Pathogenic' for Microcephalic_osteodysplastic_primordial_dwarfism_type_II. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637. Review status: criteria provided, single submitter.