Rare Zebra

Rare disease search prototype built on Orphanet data

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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