Overview
Congenital muscular dystrophy type 1B 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.
Achilles tendon contracture
HP:0001771
Congenital muscular dystrophy
HP:0003560
Delayed motor milestones
HP:0001270
Diminished diaphragmatic motion
HP:0009113
Elevated serum creatine phosphokinase
HP:0003236
Facial palsy
HP:0010628
Generalised decreased muscle tone
HP:0001290
Generalized muscle hypertrophy
HP:0003720
Positive Gower sign
HP:0003391
Respiratory failure
HP:0002878
Shoulder weakness
HP:0003547
Spinal rigidity
HP:0003306
Sternocleidomastoid amyotrophy
HP:0012036
Wasting of pec muscles
HP:0012037
Quick Facts
- SNOMED CT
- 764944006
- UMLS CUI
- C1858118
- Fully Specified Name
- Congenital muscular dystrophy type 1B (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.