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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Athabaskan brainstem dysgenesis syndrome
Ring dermoid of cornea

HOXA1 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
Ring dermoid of cornea
PITX2



Athabaskan brainstem dysgenesis syndrome
Ring dermoid of cornea

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

Synonym(s):
- Ring dermoid syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare eye disease

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

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 dominant

External references:
1 OMIM reference -
1 MeSH reference: C535397
External references:
1 OMIM reference -
1 MeSH reference: C535684

No signs/symptoms info available.