Component of conserved oligomeric Golgi complex 4 deficiency (Q103666): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
O distúrbio congênito de glicosilação tipo 2J (CDG-IIj) é uma forma extremamente rara de síndrome CDG caracterizada clinicamente no único caso relatado até o momento por convulsões, algumas características dismórficas, hipotonia axial, hipertonia periférica leve e hiperreflexia. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/2078860328 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_2078860328 | |||||||||||||||
| Property / CURIE: CID11:ID_2078860328 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_2078860328 | |||||||||||||||
| Property / Canary Token: dki-india-ID_2078860328 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest 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
CID11:ID_2078860328
0 references
dki-india-ID_2078860328
0 references
Concluído
0 references
16 August 2026
0 references
