hereditary skeletal muscle disorder

Findings

No curated finding names hereditary skeletal muscle disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary disease
• skeletal muscle disorder

Narrower terms (105)

• arthrogryposis due to muscular dystrophy
• autosomal recessive limb-girdle muscular dystrophy
• autosomal recessive myogenic arthrogryposis multiplex congenita
• Bailey-Bloch congenital myopathy
• Bethlem myopathy
• Brody myopathy
• centronuclear myopathy
• Compton-North congenital myopathy
• congenital diaphragmatic hernia
• congenital fibrosis of extraocular muscles
• congenital muscular dystrophy due to integrin alpha-7 deficiency
• congenital muscular dystrophy due to LMNA mutation
• congenital muscular dystrophy with cataracts and intellectual disability
• congenital muscular dystrophy with intellectual disability
• congenital muscular dystrophy with intellectual disability and severe epilepsy
• congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Resolves to: hereditary skeletal muscle disorder

Also called

genetic muscle diseasegenetic muscle disordergenetic muscular diseasegenetic muscular disorderhereditary muscle disorder