proximal tubulopathy-diabetes mellitus-cerebellar ataxia 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.
MONDO:0002254
syndromic disease
is_a
proximal tubulopathy, diabetes mellitus and cerebellar ataxia
related
renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
related