In family HOU2437, in addition to the initially detected CINP (HGNC:23789) variant contributing to the NDD phenotype characterized by DD, ID, microcephaly, and epilepsy, BAB6511 has a homozygous variant in MFN2 (HGNC:16877) which was reported to be likely pathogenic in ClinVar (Variation ID: 522942). The gene discussed is MFN2; the disease is epilepsy.