Features include always present findings: Increased urinary sedoheptulose, Flexion contracture, Joint stiffness present at birth (arthrogryposis multiplex congenita), and Neonatal asphyxia; and common findings: Inguinal hernia, Reduced kidney function (renal insufficiency), Abnormal kidney tubules (abnormal renal tubule morphology), and Large fontanelles and others.

SHPK function has not been fully characterized.

Isolated sedoheptulokinase deficiency is associated with mutations in the SHPK gene on chromosome 17.

Genetic testing for SHPK is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 25 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).