ORPHA:324604
Classic multiminicore myopathy
Also called Classic MmD, Classic multiminicore disease
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:324604 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Muscular dystrophy
- High palate
- Generalized hypotonia
- Failure to thrive
- Abnormally high-pitched voice
- Restrictive ventilatory defect