A: The variant NC_000022.11:g.27751030ACAG[1] in gene MN1 is classified as 'Pathogenic' for CEBALID_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774. Review status: no assertion criteria provided.