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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Athabaskan brainstem dysgenesis syndrome
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

HOXA1 RBCK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HOXA1
(0.63)
RBCK1



Citations in the biomedical literature:


Athabaskan brainstem dysgenesis syndrome
HOXA1
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
RBCK1



Athabaskan brainstem dysgenesis syndrome
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Synonym(s):
- ABSD
- Athabascan brainstem dysgenesis syndrome
- Navajo brainstem syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535397
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.