Component of oligomeric golgi complex 6-congenital disorder of glycosylation

disorder

SNOMED 1220574003CUI C3553230

Overview

Component of oligomeric golgi complex 6-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 liver enzymes

Always present (100%)HP:0002910

Cognitive delay

Always present (100%)HP:0001263

Decreased sweating

Always present (100%)HP:0000966

Susceptibility to infection

Always present (100%)HP:0002719

Thrombocytopenia

Always present (100%)HP:0001873

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Type II transferrin isoform profile

Very frequent (80-99%)HP:0012301

Atria septal defect

Frequent (30-79%)HP:0001631

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Elevated gamma-glutamyltransferase level

Frequent (30-79%)HP:0030948

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Enlarged liver

Frequent (30-79%)HP:0002240

Epidermal hyperkeratosis

Frequent (30-79%)HP:0000962

Epilepsy

Frequent (30-79%)HP:0001250

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Large spleen

Frequent (30-79%)HP:0001744

PDA

Frequent (30-79%)HP:0001643

Poor growth

Frequent (30-79%)HP:0001510

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Thin dental enamel

Frequent (30-79%)HP:0006297

Undergrowth

Frequent (30-79%)HP:0001508

Abnormal cortical gyration

Occasional (5-29%)HP:0002536

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Bleeding tendency

Occasional (5-29%)HP:0001892

Cirrhosis

Occasional (5-29%)HP:0001394

Decreased specific anti-polysaccharide antibody level

Occasional (5-29%)HP:0002848

Degeneration of cerebrum

Occasional (5-29%)HP:0002059

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Related Conditions

Inherited metabolic disorder of nervous system(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1220574003
UMLS CUI: C3553230
Fully Specified Name: Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.