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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Athabaskan brainstem dysgenesis syndrome
Axenfeld anomaly

HOXA1 FOXC1
PITX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HOXA1
(0.72)
PITX2



Citations in the biomedical literature:


Athabaskan brainstem dysgenesis syndrome
HOXA1
Axenfeld anomaly
FOXC1 PITX2



Athabaskan brainstem dysgenesis syndrome
Axenfeld anomaly

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):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
(no data available)

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

No signs/symptoms info available.