cardiomyopathy, familial hypertrophic, 31
MONDO:0979573Mondo
Findings
No curated finding names cardiomyopathy, familial hypertrophic, 31 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset
HPO, annotations 2026-09-02
Features
35 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.
- Atrial flutterHPOHP:0004749
- 1 of 1 reported patient
- Calf muscle hypertrophyHPOHP:0008981
- 1 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Congestive heart failureHPOHP:0001635
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- EMG: myopathic abnormalitiesHPOHP:0003458
- 1 of 1 reported patient
- Fatty replacement of skeletal muscleHPOHP:0012548
- 2 of 2 reported patients
- HypokinesiaHPOHP:0002375
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 2 of 2 reported patients
Show the remaining 23
- Left atrial enlargementHPOHP:0031295
- 1 of 1 reported patient
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 1 reported patient
- Mildly reduced left ventricular ejection fractionHPOHP:0012663
- 1 of 1 reported patient
- Myocardial fibrosisHPOHP:0001685
- 1 of 1 reported patient
- MyopathyHPOHP:0003198
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
Where it sits
- A kind of