Bethlem myopathy 2
MONDO:0034022Mondo
Findings
No curated finding names Bethlem myopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Distal joint hypermobilityHPOHP:0020152
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Infantile onset
- Occasional (5% to 29% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- 5 of 5 reported patients · Childhood onset
- Proximal muscle weaknessHPOHP:0003701
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- Stooped postureHPOHP:0025403
- 1 of 1 reported patient · Childhood onset
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 5 reported patients
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Atrophic scarsHPOHP:0001075
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 47
- Delayed ability to standHPOHP:0025335
- Frequent (30% to 79% of cases)
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Frequent (30% to 79% of cases)
- MyopathyHPOHP:0003198
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Hip dislocationHPOHP:0002827
- 2 of 5 reported patients
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.
- COL12A1HGNC:2188
- Strong · Ambry Genetics · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Illumina · Autosomal dominant · 2020
Where it sits
Other names
8 names
Resolves to: Bethlem myopathy 2
- Also called
- Bethlem myopathy caused by mutation in COL12A1Bethlem myopathy type 2BTHLM2COL12A1 Bethlem myopathyEDS, myopathic typeEhlers-Danlos syndrome, myopathic typemyopathic EDSmyopathic Ehlers-Danlos syndrome