ORPHA:576
Mucolipidosis type II
Also called I-cell disease, Mucolipidosis type II alpha/beta, N-acetylglucosamine 1-phosphotransferase deficiency
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:576 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Gingival overgrowth
- Coarse facial features
- Thickened skin
- Motor delay
- Umbilical hernia
- Protuberant abdomen