Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency

disorder

SNOMED 1234819007CUI C4015184

Overview

Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency 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.

Congenital hypotonia

Always present (100%)HP:0001319

Delayed ability to walk

Always present (100%)HP:0031936

Delayed motor milestones

Always present (100%)HP:0001270

Difficulty walking up stairs

Always present (100%)HP:0003551

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Hyporeflexia

Always present (100%)HP:0001265

Limb-girdle muscle weakness

Always present (100%)HP:0003325

Mental retardation, borderline

Always present (100%)HP:0006889

Mega cisterna magna

Frequent (30-79%)HP:0002280

Positive Gower sign

Frequent (30-79%)HP:0003391

Congenital muscular dystrophy

HP:0003560

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Chronic nervous system disease(parent)

Chronic metabolic disease(parent)

Carbohydrate-deficient glycoprotein syndrome(parent)

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Developmental delay(parent)

Quick Facts

SNOMED CT: 1234819007
UMLS CUI: C4015184
Fully Specified Name: Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.