moderate multiminicore disease with hand involvement
ORPHA: 178145
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with moderate multiminicore disease with hand involvement, sourced from HPO and Orphanet clinical annotations.
Neonatal hypotoniaJoint hypermobilityTalipes equinovarusDelayed gross motor developmentGeneralized muscle weaknessAxial muscle weaknessIntrinsic hand muscle atrophyDistal upper limb muscle weaknessDifficulty runningFacial palsyHyporeflexia of upper limbsType 1 muscle fiber predominanceKnee dislocationRecurrent patellar dislocation
Classification & Codes
Orphanet Code
ORPHA:178145moderate multiminicore disease with hand involvement
| Orphanet | ORPHA:178145 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO