ORPHA:93
Aspartylglucosaminuria
Also called Aspartylglucosaminidase deficiency
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- 1-9 / 1 000 000 (Australia)
- Rarity class
- 1-9 / 1 000 000
ORPHA:93 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Gingival overgrowth
- Mandibular prognathia
- Hypertelorism
- Wide nasal bridge
- Delayed speech and language development
- Intellectual disability