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