Congenital myopathy 16

Preferred Label : Congenital myopathy 16;

Symbol : CMYO16;

CISMeF acronym : MYOTREM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myogenic tremor; Myopathy, congenital, with tremor; MYOTREM;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin-binding protein C, slow type gene (MYBPC1, 160794.0004);

Prefixed ID : #618524;

Details

Origin ID

618524;

UMLS CUI

C5231401;

Genes related to phenotype
- Myosin-binding protein C, slow type [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Axial muscle weakness [HPO term]
- Distal muscle weakness [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Flexion contracture [HPO term]
- High palate [HPO term]
- Lumbar hyperlordosis [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Postural tremor [HPO term]
- Prominent nasolabial fold [HPO term]
- Proximal muscle weakness [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Spinal rigidity [HPO term]
- Tongue tremor [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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