Congenital myasthenic syndrome with glycosylation defect due to ALG14 gene mutation

disorder

SNOMED 1366554003CUI C6009901

Overview

Congenital myasthenic syndrome with glycosylation defect due to ALG14 gene mutation is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Congenital myasthenia(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1366554003
UMLS CUI: C6009901
Fully Specified Name: Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.