Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome- MedGen UID:
- 463309
- •Concept ID:
- C3151959
- •
- Disease or Syndrome
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.