Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Q102278): Difference between revisions
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A síndrome Tubulopatia proximal - diabetes mellitus - ataxia cerebelar é caracterizada pelo aparecimento de tubulopatia proximal no primeiro ano de vida, seguido por desenvolvimento progressivo de anomalias cutâneas durante a infância (eritrocianose e pigmentação anormal), deficiência visual , osteoporose, ataxia cerebelar, miopatia mitocondrial, surdez e diabetes mellitus. | |||
| description / en | description / en | ||
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. | |||
Revision as of 19:12, 16 August 2026
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.
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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. |
