A: The variant NC_000021.9:g.31693352_31693353del in gene SCAF4 is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755. Review status: criteria provided, single submitter.