Johanson-Blizzard syndrome

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Johanson-Blizzard syndrome

Synonyms: JBS

Johanson-Blizzard syndrome (JBS) is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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