Superaktivita fosforibosylpyrofosfátsyntetázy

ORPHA:3222· ICD-10 E79.8· Phosphoribosylpyrophosphate synthetase superactivity

Prevalence: <1 / 1 000 000
Dědičnost: X-linked recessive
Věk nástupu: Adolescent, Adult, Childhood, Infancy, Neonatal