syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse
Syndrome with characteristics of the 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 atax
SNOMEDCT-BE (disorder) / 724062000
SNOMEDCT-BE (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar atax / 724062000