moderate multiminicore disease with hand involvement
MONDO:0015793Mondo
Findings
No curated finding names moderate multiminicore disease with hand involvement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 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.
- Axial muscle weaknessHPOHP:0003327
- Frequent (30% to 79% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Frequent (30% to 79% of cases)
- Hyporeflexia of upper limbsHPOHP:0012391
- Frequent (30% to 79% of cases)
- Intrinsic hand muscle atrophyHPOHP:0008954
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
- Knee dislocationHPOHP:0004976
- Occasional (5% to 29% of cases)
Show the remaining 2
- Recurrent patellar dislocationHPOHP:0005001
- Occasional (5% to 29% of cases)
- Type 1 muscle fiber predominanceHPOHP:0003803
- Occasional (5% to 29% of cases)
Where it sits
- A kind of