Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

Preferred Label : Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy;

Symbol : MFM12;

Type : Phenotype, molecular basis known;

Prefixed ID : #619424;

Details

Origin ID

619424;

UMLS CUI

C5561937;

Genes related to phenotype
- Myosin, light chain 2, regulatory, cardiac, slow [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Biventricular hypertrophy [HPO term]
- Cardiogenic shock [HPO term]
- Cardiorespiratory arrest [HPO term]
- Clonus [HPO term]
- Death in infancy [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle weakness [HPO term]
- Hepatomegaly [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Left atrial enlargement [HPO term]
- Left ventricular noncompaction cardiomyopathy [HPO term]
- Mitral regurgitation [HPO term]
- Myocardial fibrosis [HPO term]
- Myofiber disarray [HPO term]
- Neonatal onset [HPO term]
- Ptosis [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Right atrial enlargement [HPO term]
- Tented upper lip vermilion [HPO term]
- Tremor [HPO term]
- Type 1 fibers relatively smaller than type 2 fibers [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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