Mannose-P-dolichol utilisation defect 1 (Q89996): Difference between revisions

← Older edit

@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/2086182172
@@ Property / Canonical URI: https://id.who.int/icd/entity/2086182172 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_2086182172
@@ Property / CURIE: CID11:ID_2086182172 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_2086182172
@@ Property / Canary Token: dki-india-ID_2086182172 / 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 +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest revision as of 16:55, 15 August 2026

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17.

Language	Label	Description	Also known as
default for all languages	ID_2086182172
English	Mannose-P-dolichol utilisation defect 1	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17.