congenital myopathy 22B, severe fetal
MONDO:0957265Mondo
Findings
No curated finding names congenital myopathy 22B, severe fetal 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
- Congenital onset · Antenatal onset · Second trimester onset
HPO, annotations 2026-09-02
Features
58 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.
- Decreased fetal movementHPOHP:0001558
- 7 of 10 reported patients
- PolyhydramniosHPOHP:0001561
- 7 of 10 reported patients
- Hypoplasia of the musculatureHPOHP:0009004
- 6 of 10 reported patients
- TalipesHPOHP:0001883
- 6 of 10 reported patients
- HypotoniaHPOHP:0001252
- 5 of 10 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 5 of 10 reported patients
- Generalized amyotrophyHPOHP:0003700
- 4 of 10 reported patients
- High palateHPOHP:0000218
- 4 of 10 reported patients
- Limb muscle weaknessHPOHP:0003690
- 4 of 10 reported patients
- Motor delayHPOHP:0001270
- 4 of 10 reported patients
- Nonimmune hydrops fetalisHPOHP:0001790
- 4 of 10 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 4 of 10 reported patients
Show the remaining 46
- Axial muscle weaknessHPOHP:0003327
- 3 of 10 reported patients
- Breech presentationHPOHP:0001623
- 3 of 10 reported patients
- Frontal bossingHPOHP:0002007
- 3 of 10 reported patients
- Hip contractureHPOHP:0003273
- 3 of 10 reported patients
- Limb joint contractureHPOHP:0003121
- 3 of 10 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 10 reported patients