Component of conserved oligomeric Golgi complex 4 deficiency (Q103666): Difference between revisions

From determinar.ia.br - Determine suas informações
‎Changed label, description and/or aliases in pt-br, en
‎Changed an Item
Property / Canonical URI
 
Property / Canonical URI: https://id.who.int/icd/entity/2078860328 / rank
 
Normal rank

Revision as of 09:25, 17 August 2026

Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome characterised clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.
Language Label Description Also known as
default for all languages
ID_2078860328
    English
    Component of conserved oligomeric Golgi complex 4 deficiency
    Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome characterised clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.

      Statements