Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Q102278)
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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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_225979941 |
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| English | Proximal tubulopathy - diabetes mellitus - cerebellar ataxia |
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. |
