ODCs

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1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
No signs/symptoms info

Autosomal recessive ataxia, Beauce type

17q11 microdeletion syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SYNE1	(0.63)	SUZ12

Citations in the biomedical literature:

Autosomal recessive ataxia, Beauce type		17q11 microdeletion syndrome
	Synonym(s): - ARCA1 - Autosomal recessive cerebellar ataxia type 1 - SCAR8		Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Autosomal recessive ataxia, Beauce type
	Very frequent - Ataxia / incoordination / trouble of the equilibrium
17q11 microdeletion syndrome
(no data available)