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Spinocerebellar ataxia type 15/16

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

PROTEIN INTERACTIONS: 1

Dysequilibrium syndrome

4 OMIM references -
4 associated genes
14 signs/symptoms

Spinocerebellar ataxia type 15/16

Dysequilibrium syndrome

ITPR1	(UniProt - OMIM)		ATP8A2	(UniProt - OMIM)
			CA8	(UniProt - OMIM)
			VLDLR	(UniProt - OMIM)
			WDR81	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITPR1	(0.84)	CA8

Citations in the biomedical literature:

Spinocerebellar ataxia type 15/16		Dysequilibrium syndrome
	Synonym(s): - SCA15/16		Synonym(s): - CAMRQ syndrome - Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome - Non-progressive cerebellar ataxia - intellectual deficit

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 1 MeSH reference: C535731

Dysequilibrium syndrome
	Very frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hypereflexia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Strabismus / squint Occasional - Anomalies of eyes and vision - Cataract / lens opacification
Spinocerebellar ataxia type 15/16
(no data available)