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Autosomal recessive limb girdle muscular dystrophy type 2S
disorderSNOMED 732929002CUI C4517996
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Abnormal levels of creatine kinase in blood
Frequent (30-79%)HP:0040081
Cataract
Frequent (30-79%)HP:0000518
Cerebral white matter atrophy
Frequent (30-79%)HP:0012762
Congenital muscular dystrophy
Frequent (30-79%)HP:0003560
Hyporeflexia
Frequent (30-79%)HP:0001265
limb girdle muscular dystrophy
Frequent (30-79%)HP:0006785
Mental deficiency
Frequent (30-79%)HP:0001249
Mental retardation, borderline
Frequent (30-79%)HP:0006889
Muscle fiber atrophy
Frequent (30-79%)HP:0100295
Muscle pain
Frequent (30-79%)HP:0003326
Muscle spasm
Frequent (30-79%)HP:0003394
Myopathy
Frequent (30-79%)HP:0003198
Nonverbal
Frequent (30-79%)HP:0001344
Proximal neurogenic muscle weakness
Frequent (30-79%)HP:0003701
Scoliosis
Frequent (30-79%)HP:0002650
Supratentorial atrophy
Frequent (30-79%)HP:0002059
Absent tear secretion
Occasional (5-29%)HP:0000522
Achalasia
Occasional (5-29%)HP:0002571
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Choreiform movements
Occasional (5-29%)HP:0002072
CNS hypomyelination
Occasional (5-29%)HP:0003429
Decreased size of cranium
Occasional (5-29%)HP:0000252
Elevated liver enzymes
Occasional (5-29%)HP:0002910
Enlarged liver
Occasional (5-29%)HP:0002240
Exophoria
Occasional (5-29%)HP:0025313
Fatty liver
Occasional (5-29%)HP:0001397
Generalized tonic-clonic seizure (without specification of onset)
Occasional (5-29%)HP:0002069
Hypotonia, early
Occasional (5-29%)HP:0008947
Quick Facts
- SNOMED CT
- 732929002
- UMLS CUI
- C4517996
- Fully Specified Name
- Autosomal recessive limb girdle muscular dystrophy type 2S (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.