congenital myopathy 18

Term ID

DOID:0081350

Synonyms

Definition

A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. (2)

References

MIM:620246

Ontology

Human Disease ( DOID:0081350 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease congenital myopathy

autosomal dominant disease autosomal recessive disease congenital myopathy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models