Congenital fibre-type disproportion myopathy due to ACTA1 mutation

Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)

active

Code	`1208413008`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20220331

Synonyms

Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
Congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation

Parents (4)

1899006Autosomal hereditary disorder disorder
240084007Congenital myopathy with fibre type disproportion disorder
363070008Developmental hereditary disorder disorder
363212003Hereditary disorder of musculoskeletal system disorder

Children (2)

1208415001Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation disorder
1208414002Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation disorder