ORPHA:33355

Reticular dysgenesis

Also called AK2 deficiency, De Vaal disease, SCID with sensorineural deafness, SCID with sensorineural hearing loss, Severe combined immunodeficiency with sensorineural deafness, Severe combined immunodeficiency with sensorineural hearing loss

Body system

Immunological diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Europe)

Rarity class

<1 / 1 000 000

ORPHA:33355 is classified under "Immunological diseases" in the Orphanet nomenclature.