COG2-related congenital disorder of glycosylation

disorder

SNOMED 1197753005CUI C4479353

Overview

COG2-related congenital disorder of glycosylation is a disorder.

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

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal glycosylation

Always present (100%)HP:0012345

Elevated serum transaminases

Always present (100%)HP:0002910

Psychomotor development deficiency

Always present (100%)HP:0001263

Abnormality of the coagulation cascade

Frequent (30-79%)HP:0003256

Decreased liver function

Frequent (30-79%)HP:0001410

Diffuse cerebral atrophy

Frequent (30-79%)HP:0002506

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Hypoceruloplasminemia

Frequent (30-79%)HP:0010837

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Malformation of face

Frequent (30-79%)HP:0001999

Mental-retardation

Frequent (30-79%)HP:0001249

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Psychomotor deterioration

Frequent (30-79%)HP:0002361

Reduced serum copper

Frequent (30-79%)HP:0011967

Small pituitary gland

Frequent (30-79%)HP:0012506

Spastic quadriplegia

Frequent (30-79%)HP:0002510

Central hypotonia

Excluded (<1%)HP:0001252

Related Conditions

N-Acetylglucosaminyl transferase II deficiency(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1197753005
UMLS CUI: C4479353
Fully Specified Name: Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.