congenital myopathy

Findings

No curated finding names congenital myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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

• myopathy

Narrower terms (53)

• alpha-actinopathy
• Bailey-Bloch congenital myopathy
• Batten-Turner congenital myopathy
• benign Samaritan congenital myopathy
• Bethlem myopathy
• centronuclear myopathy
• Compton-North congenital myopathy
• congenital generalized hypercontractile muscle stiffness syndrome
• congenital myopathy 10b, mild variant
• congenital myopathy 11
• congenital myopathy 15
• congenital myopathy 18
• congenital myopathy 20
• congenital myopathy 21 with early respiratory failure
• congenital myopathy 22A, classic
• congenital myopathy 22B, severe fetal
• congenital myopathy 25
• congenital myopathy 26
• congenital myopathy 27
• congenital myopathy 28 with rigid spine
• congenital myopathy 29 with contractures