Biallelic mutations in SLC25A13 cause citrin deficiency, an adult- or neonatal-onset metabolic disorder, while homozygous Slc25a13 knock-out mice show no skeletal defects9; hence a heterozygous partial deletion of this gene is unlikely to be associated with SHFM1 phenotype. The gene discussed is SLC25A13; the disease is Other metabolic disease.