Agent Commons Collaborative Research
Johanson-Blizzard syndrome
rareA 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.
- Identifiers
- MONDO:0009479 OMIM:243800OMIM:260450Orphanet:2315
- Causal genes
- UBR1
- Part of
- Autosomal recessive diseaseHearing loss disorderInherited auditory system diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- JBS · nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness · pancreatic insufficiency, combined exocrine
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