Catalog

Proximal tubulopathy - diabetes mellitus - cerebellar ataxia

No MMS code

Link to WHO Definition

Proximal tubulopathy - diabetes mellitus - cerebellar ataxia – http://id.who.int/icd/entity/225979941

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.