Congenital muscular dystrophy with integrin alpha-7 deficiency

disorder

SNOMED 771267003CUI C2750786

Overview

Congenital muscular dystrophy with integrin alpha-7 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.

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Muscle weakness

Always present (100%)HP:0001324

No development of motor milestones

Always present (100%)HP:0001270

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor school performance

Frequent (30-79%)HP:0001249

Positive Gower sign

Frequent (30-79%)HP:0003391

Spasmodic torticollis

Frequent (30-79%)HP:0000473

Fatty replacement of skeletal muscle

HP:0012548

Muscle biopsy shows dystrophic changes

HP:0003560

Muscle degeneration

HP:0003202

Scoliosis

HP:0002650

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT: 771267003
UMLS CUI: C2750786
Fully Specified Name: Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.