syndromic disease proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome https://www.malacards.org/card/renal_tubulopathy_diabetes_mellitus_and_cerebellar_ataxia MESH:C564014 GARD:0004532 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized 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. MONDO:0010798 proximal tubulopathy, diabetes mellitus and cerebellar ataxia MEDGEN:463309 renal tubulopathy, diabetes mellitus, and cerebellar ataxia OMIM:560000 Orphanet:3390 UMLS:C3151959 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA