ORPHA:178145
Moderate multiminicore disease with hand involvement
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Childhood, Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:178145 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Neonatal hypotonia
- Joint hypermobility
- Talipes equinovarus
- Delayed gross motor development
- Generalized muscle weakness
- Axial muscle weakness