ORPHA:675782
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Also called Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:675782 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.