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Congenital myopathy with fibre type disproportion
disorderSNOMED 240084007CUI C0546264
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Progressive muscle weakness
Very frequent (80-99%)HP:0003323
Type 1 muscle fiber atrophy
Very frequent (80-99%)HP:0011807
Abnormal skeletal morphology
Frequent (30-79%)HP:0011842
Abnormality of the respiratory system
Frequent (30-79%)HP:0002086
Areflexia
Frequent (30-79%)HP:0001284
Deglutition disorder
Frequent (30-79%)HP:0002015
Delay in head control
Frequent (30-79%)HP:0002421
Delayed motor milestones
Frequent (30-79%)HP:0001270
Dental crowding
Frequent (30-79%)HP:0000678
Diminished deep tendon reflexes
Frequent (30-79%)HP:0001315
Easy fatigability
Frequent (30-79%)HP:0003388
Fatigable weakness of bulbar muscles
Frequent (30-79%)HP:0030192
Feeding difficulties
Frequent (30-79%)HP:0011968
Flexion contractures
Frequent (30-79%)HP:0001371
High arched palate
Frequent (30-79%)HP:0000218
Loss of appetite
Frequent (30-79%)HP:0004396
Myopathic facial appearance
Frequent (30-79%)HP:0002058
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Respiratory failure due to muscle weakness
Frequent (30-79%)HP:0002747
Tiredness
Frequent (30-79%)HP:0012378
Weakness of face
Frequent (30-79%)HP:0030319
Weakness of muscles of respiration
Frequent (30-79%)HP:0004347
Weight loss
Frequent (30-79%)HP:0001824
Ankle flexion contracture
Occasional (5-29%)HP:0006466
Aspiration pneumonia
Occasional (5-29%)HP:0011951
Cardiac anomaly
Occasional (5-29%)HP:0001627
Cavus foot
Occasional (5-29%)HP:0001761
Chewing difficulties
Occasional (5-29%)HP:0005216
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Related Conditions
Congenital fiber-type disproportion myopathy due to ZAK mutation(child)
Congenital fiber-type disproportion myopathy due to SELENON mutation(child)
Congenital fibre-type disproportion myopathy due to ACTA1 mutation(child)
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation(child)
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation(child)
Myopathy with abnormality of histochemical fibre type(parent)
Genetic disease(parent)
Quick Facts
- SNOMED CT
- 240084007
- UMLS CUI
- C0546264
- Fully Specified Name
- Congenital myopathy with fiber type disproportion (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.