ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Athabaskan brainstem dysgenesis syndrome

Lethal arteriopathy syndrome due to FBLN4 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HOXA1	(0.87)	EFEMP2

Citations in the biomedical literature:

Athabaskan brainstem dysgenesis syndrome		Lethal arteriopathy syndrome due to FBLN4 deficiency
	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 circulatory system disease - Rare genetic disease - Rare surgical thoracic disease

	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: before age 5 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.