ORPHA:693647
Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
Also called Syndromic agammaglobulinemia due to FNIP1 deficiency, Syndromic hypogammaglobulinemia due to FNIP1 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:693647 is classified under "Immunological diseases" in the Orphanet nomenclature.