proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome GARD:0004532 ICD10:Q87.8 MESH:C564014 MONDO:0010798 OMIM:560000 Orphanet:3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. UMLS:C3151959 proximal tubulopathy, diabetes mellitus and cerebellar ataxia renal tubulopathy, diabetes mellitus, and cerebellar ataxia renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA nephropathy secondary to a storage or other metabolic disease