Hyperfenylalaninemie způsobená deficitem DNAJC12
ORPHA:508523· ICD-10 E70.1· Hyperphenylalaninemia due to DNAJC12 deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy
ORPHA:508523· ICD-10 E70.1· Hyperphenylalaninemia due to DNAJC12 deficiency