Johanson-Blizzard syndrome

MONDO:0009479

A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

Also known as: JBS, Johanson-Blizzard syndrome, pancreatic insufficiency, combined exocrine, Johanson-BLIZZARD syndrome, nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness, nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

0 clinical trials for this condition and its sub-types, 0 tagged with Johanson-Blizzard syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Hereditary neurological disease (5772) ↑ Autosomal recessive disease (994) ↑ Hearing loss disorder (439) ↑ Congenital nervous system disorder (284) ↑ Inherited auditory system disease (120) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Including sub-types (0) Tagged with Johanson-Blizzard syndrome (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.