Autozomálně recesivní
A recessive condition caused by changes in UBR1, featuring congenital sensorineural hearing loss, exocrine pancreatic insufficiency, underdevelopment of the nose wings and other features.
Co se diagnózou změní
Knowing about it allows pancreatic enzyme replacement and hearing support to be started early.
Analyzované geny
Známé také jako
JBS; nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness; pancreatic insufficiency, combined exocrine
