Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

MONDO:0010798

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.

Also known as: proximal tubulopathy, diabetes mellitus and cerebellar ataxia, renal tubulopathy, diabetes mellitus, and cerebellar ataxia, renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA

0 clinical trials for this condition and its sub-types, 0 tagged with Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome itself.

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↑ Syndromic disease (7158)

Including sub-types (0) Tagged with Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome (0)

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