Autoszomális recesszív
A recessive condition caused by changes in UBR1, featuring congenital sensorineural hearing loss, exocrine pancreatic insufficiency, underdevelopment of the nose wings and other features.
Mit változtat a diagnózis
Knowing about it allows pancreatic enzyme replacement and hearing support to be started early.
Vizsgált gének
Más néven
JBS; nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness; pancreatic insufficiency, combined exocrine
