Pancreatic insufficiency, nasal alae hypoplasia and deafness.
- Specialty
- Gastroenterology
- Subspecialty
- Gastroenterology / Pancreatic disease
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- UBR1
- Alternative names & eponyms
- JBS
Etiology & mechanism
UBR1 ubiquitin ligase deficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Johanson–Blizzard syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Aicardi syndrome
developmental delay
1 shared
Autoimmune polyglandular syndrome type 2
hypothyroidism
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Benign hereditary chorea
hypothyroidism
1 shared
Brain–lung–thyroid syndrome
developmental delay
1 shared
Cardio-facio-cutaneous syndrome
developmental delay
1 shared
Chanarin–Dorfman syndrome
developmental delay
1 shared
Cobalamin C syndrome
developmental delay
1 shared
Cockayne syndrome
developmental delay
1 shared
Congenital rubella syndrome
deafness
Shares genes with
None.
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