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Johanson-Blizzard syndrome (JBS)
Pathology:
- intrauterine-onset destructive pancreatitis
Genetics:
- defects in UBR1 gene
Clinical manifestations:
1) hypoplasia of the nasal alar process
2) hypothyroidism
3) pancreatic achylia, congenital (exocrine insufficiency)
4) congenital exocrine
5) mental retardation (frequent)
General
developmental disorder
syndrome
Database Correlations
OMIM 243800
References
OMIM :accession 243800