Mannosyltransferase 7-9 deficiency (Q94047): 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/2996593 / rank | |||
Normal rank | |||
Revision as of 09:09, 16 August 2026
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IL is characterised by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described in two girls. The syndrome is associated with mutations in the ALG9 gene (localised to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,2-mannosyl transferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2996593 |
||
| English | Mannosyltransferase 7-9 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IL is characterised by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described in two girls. The syndrome is associated with mutations in the ALG9 gene (localised to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,2-mannosyl transferase. |
