Congenital muscular dystrophy with mitochondrial structural abnormalities

disorder

SNOMED 1230273004CUI C1865233

Overview

Congenital muscular dystrophy with mitochondrial structural abnormalities 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.

Delayed language development

Always present (100%)HP:0000750

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Generalised decreased muscle tone

Always present (100%)HP:0001290

Increased endomysial connective tissue

Always present (100%)HP:0100297

Megamitochondria

Always present (100%)HP:0033686

Mental-retardation

Always present (100%)HP:0001249

Muscle weakness

Always present (100%)HP:0001324

Muscular dystrophy

Always present (100%)HP:0003560

Decreased size of cranium

Frequent (30-79%)HP:0000252

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Epilepsy

Occasional (5-29%)HP:0001250

Delayed motor milestones

HP:0001270

Difficulty speaking

HP:0002465

Facial palsy

HP:0010628

Ichthyosiform abnormality of the skin

HP:0008064

Myopathy

HP:0003198

Positive Gower sign

HP:0003391

Waddling gait

HP:0002515

Related Conditions

Congenital hereditary muscular dystrophy(parent)

Inherited metabolic disorder of nervous system(parent)

Chronic nervous system disease(parent)

Chronic metabolic disease(parent)

Disorder of lipid metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Global developmental delay(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1230273004
UMLS CUI: C1865233
Fully Specified Name: Megaconial congenital muscular dystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.