Carbohydrate deficient glycoprotein syndrome type 1o

disorder

SNOMED 725044000CUI C2752007

Overview

Carbohydrate deficient glycoprotein syndrome type 1o 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.

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Gowers sign

Always present (100%)HP:0003391

Increased variation in muscle fibre size

Always present (100%)HP:0003557

limb girdle muscular dystrophy

Always present (100%)HP:0006785

Myopathy

Always present (100%)HP:0003198

Proximal neurogenic muscle weakness

Always present (100%)HP:0003701

Type I transferrin isoform profile

Always present (100%)HP:0003642

Unsteady walk

Always present (100%)HP:0002317

Waddling gait

Always present (100%)HP:0002515

Decreased sialylation of O-linked protein glycosylation

Very frequent (80-99%)HP:0012363

Abnormal liver function tests

Frequent (30-79%)HP:0002910

Chest discomfort

Frequent (30-79%)HP:0100749

Dropped arches

Frequent (30-79%)HP:0001763

Extensor plantar responses

Frequent (30-79%)HP:0003487

Hip-girdle muscle weakness

Frequent (30-79%)HP:0003749

Increased creatine phosphokinase after exercise

Frequent (30-79%)HP:0008331

Increased size of calf muscles

Frequent (30-79%)HP:0008981

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Muscle weakness

Frequent (30-79%)HP:0001324

Muscular dystrophy

Frequent (30-79%)HP:0003560

Reduced tendon reflexes

Frequent (30-79%)HP:0001315

Rimmed vacuoles

Frequent (30-79%)HP:0003805

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Stroke-like episode

Frequent (30-79%)HP:0002401

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 725044000
UMLS CUI: C2752007
Fully Specified Name: Carbohydrate deficient glycoprotein syndrome type 1o (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.