Overview
Severe congenital nemaline myopathy 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.
Abnormality of the chest
Frequent (30-79%)HP:0000765
Axial muscle weakness
Frequent (30-79%)HP:0003327
Congenital hypotonia
Frequent (30-79%)HP:0001319
Decreased fetal movement
Frequent (30-79%)HP:0001558
Decreased muscle movement
Frequent (30-79%)HP:0002375
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed motor milestones
Frequent (30-79%)HP:0001270
Facial muscle weakness of muscles innervated by CN VII
Frequent (30-79%)HP:0010628
Feet or buttocks of fetus positioned near opening of uterus
Frequent (30-79%)HP:0001623
Flexion contractures
Frequent (30-79%)HP:0001371
Hydramnios
Frequent (30-79%)HP:0001561
Increased connective tissue
Frequent (30-79%)HP:0009025
Laboured breathing
Frequent (30-79%)HP:0002098
Multiple prenatal fractures
Frequent (30-79%)HP:0005855
Muscle atrophy, neurogenic
Frequent (30-79%)HP:0003202
Nemaline rods
Frequent (30-79%)HP:0003798
Respiratory failure
Frequent (30-79%)HP:0002878
Severe muscular hypotonia
Frequent (30-79%)HP:0006829
Type 1 muscle fiber predominance
Frequent (30-79%)HP:0003803
Abnormality of the diaphragm
Occasional (5-29%)HP:0000775
Arthrogryposis multiplex
Occasional (5-29%)HP:0002804
Bilateral facial weakness
Occasional (5-29%)HP:0001349
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Eye drop
Occasional (5-29%)HP:0000508
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Falls
Occasional (5-29%)HP:0002527
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Fetal foot inversion
Occasional (5-29%)HP:0001762
Gait disturbance
Occasional (5-29%)HP:0001288
Heart stops beating
Occasional (5-29%)HP:0001695
Related Conditions
Quick Facts
- SNOMED CT
- 1197157004
- UMLS CUI
- C5680451
- Fully Specified Name
- Severe congenital nemaline myopathy (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.