ORPHA:445038
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Also called 3-methylglutaconic aciduria type 7, MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome, MGA7
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:445038 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Renal cyst
- Nephrocalcinosis
- Cataract
- Decreased total neutrophil count
- 3-Methylglutaconic aciduria
- Primary microcephaly