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GTR Home > Conditions/Phenotypes > Johanson-Blizzard syndrome

Johanson-Blizzard syndrome

Synonyms
Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JBS, UBR1
    Summary: ubiquitin protein ligase E3 component n-recognin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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