Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Q102278): Difference between revisions

← Older edit

@@ Property / CURIE @@
+CID11:ID_225979941
@@ Property / CURIE: CID11:ID_225979941 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_225979941
@@ Property / Canary Token: dki-india-ID_225979941 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-15T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-15T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 15 August 2026 / rank @@
+Normal rank

Latest 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.

Language	Label	Description	Also known as
default for all languages	ID_225979941
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.