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Autosomal recessive limb girdle muscular dystrophy type 2P
disorderSNOMED 726614009CUI C4511963
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed language development
Always present (100%)HP:0000750
Dull intelligence
Always present (100%)HP:0001249
Gait disturbance
Always present (100%)HP:0001288
Hypoglycosylation of alpha-dystroglycan
Always present (100%)HP:0030046
Limb-girdle muscle weakness
Always present (100%)HP:0003325
Psychomotor development deficiency
Always present (100%)HP:0001263
Elevated serum 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
Delayed motor milestones
Frequent (30-79%)HP:0001270
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Increased size of calf muscles
Frequent (30-79%)HP:0008981
Mental retardation, severe
Frequent (30-79%)HP:0010864
Unsteady walk
Frequent (30-79%)HP:0002317
Waddling gait
Frequent (30-79%)HP:0002515
Ankle flexion contracture
Occasional (5-29%)HP:0006466
Calf muscle pseudohypertrophy
Occasional (5-29%)HP:0003707
Increased lumbar lordosis
Occasional (5-29%)HP:0002938
Mental retardation, mild
Occasional (5-29%)HP:0001256
Problems speaking
Occasional (5-29%)HP:0002465
Muscular dystrophy
HP:0003560
Positive Gower sign
HP:0003391
Quick Facts
- SNOMED CT
- 726614009
- UMLS CUI
- C4511963
- Fully Specified Name
- Autosomal recessive limb girdle muscular dystrophy type 2P (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.