ORPHA:351
Galactosialidosis
Also called Goldberg syndrome, Neuraminidase deficiency with beta-galactosidase deficiency
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:351 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Coarse facial features
- Hearing impairment
- Abnormality of the vertebral column
- Intellectual disability
- Seizure
- Skeletal dysplasia