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Autosomal recessive limb girdle muscular dystrophy type 2N
disorderSNOMED 726617002CUI C3150418
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypertrophic muscles
Always present (100%)HP:0003712
Proximal limb muscle weakness
Always present (100%)HP:0003701
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
limb girdle muscular dystrophy
Very frequent (80-99%)HP:0006785
Reduced muscle fiber alpha dystroglycan
Very frequent (80-99%)HP:0030099
Cognitive deficits
Frequent (30-79%)HP:0100543
Delayed gross motor development
Frequent (30-79%)HP:0002194
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Fatigable weakness of skeletal muscles
Frequent (30-79%)HP:0030197
Gait disturbance
Frequent (30-79%)HP:0001288
Specific learning disability
Frequent (30-79%)HP:0001328
Symmetrical, proximal limb muscle atrophy
Frequent (30-79%)HP:0007126
Complete right bundle branch block
Occasional (5-29%)HP:0011712
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Frontal cortex degeneration
Occasional (5-29%)HP:0006913
Inability to walk
Occasional (5-29%)HP:0002540
Increased size of calf muscles
Occasional (5-29%)HP:0008981
Left ventricular systolic dysfunction
Occasional (5-29%)HP:0025169
Mental and motor retardation
Occasional (5-29%)HP:0001263
Scapula alata
Occasional (5-29%)HP:0003691
Scapuloperoneal atrophy
Occasional (5-29%)HP:0003697
Stretched and thinned heart muscle
Occasional (5-29%)HP:0001644
Delayed motor milestones
HP:0001270
Muscular dystrophy
HP:0003560
Quick Facts
- SNOMED CT
- 726617002
- UMLS CUI
- C3150418
- Fully Specified Name
- Autosomal recessive limb girdle muscular dystrophy type 2N (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.