Muscular dystrophy, limb-girdle, autosomal recessive 27

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 27;

Symbol : LGMDR27;

Type : Phenotype, molecular basis known;

Prefixed ID : #619566;

Details

Origin ID

619566;

UMLS CUI

C5562002;

Genes related to phenotype
- Jagged 2 [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal upper limb muscle weakness [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Juvenile onset [HPO term]
- Knee flexion contracture [HPO term]
- Loss of ability to walk [HPO term]
- Muscular dystrophy [HPO term]
- Neck muscle weakness [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Proximal muscle weakness in upper limbs [HPO term]
- Ptosis [HPO term]
- Reduced forced vital capacity [HPO term]
- Scoliosis [HPO term]
- Shoulder flexion contracture [HPO term]
- Skeletal muscle atrophy [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Spinal rigidity [HPO term]
- Weakness of facial musculature [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
- Young adult onset [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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