The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

Shwachman-Diamond Syndrome

Prevalence: 1/75000

hematologic

Official·OMIM:260400 Official·ORPHA811

Pancreatic insufficiency and bone marrow failure due to SBDS gene mutations.

Associated Genes

SBDSSBDS Ribosome Maturation Factor

Chromosome 7Autosomal Recessive