Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
19 Certain conditions originating in the perinatal period
Transitory endocrine or metabolic disorders specific to fetus or newborn
KB60 Transitory disorders of carbohydrate metabolism specific to fetus or newborn
H01377 Mitchell-Riley syndrome
