A: The variant NC_000022.11:g.41523854G>C in gene ACO2 is classified as 'Uncertain_significance' for Global_developmental_delay|Central_hypoventilation|Progressive_microcephaly|Brain_atrophy|Neurodegeneration. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0007110,MedGen:C3805839|Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456|Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584|Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746. Review status: criteria provided, single submitter.