A: The variant NC_000019.10:g.54174328del in gene MBOAT7 is classified as 'Pathogenic' for Neurodevelopmental_abnormality|Intellectual_disability,_autosomal_recessive_57. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737|MONDO:MONDO:0014962,MedGen:C4310673,OMIM:617188. Review status: criteria provided, single submitter.