hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Findings
No curated finding names hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
Definition from the Mondo Disease Ontology (MONDO:0019195), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- MYH2HGNC:7572
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Illumina · Autosomal dominant · 2019
Where it sits
Other names
4 names
Resolves to: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
- Also called
- hereditary inclusion body myopathy type 3HIBM3IBM3inclusion body myopathy type 3