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Dysequilibrium syndrome

4 OMIM references -
4 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Sea-blue histiocytosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Dysequilibrium syndrome

Sea-blue histiocytosis

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VLDLR	(0.52)	APOE

Citations in the biomedical literature:

Dysequilibrium syndrome		Sea-blue histiocytosis
	Synonym(s): - CAMRQ syndrome - Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome - Non-progressive cerebellar ataxia - intellectual deficit		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Dysequilibrium syndrome		Sea-blue histiocytosis
	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		Very frequent - Blepharitis / eyelid inflammation - Cutaneous edema - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hepatomegaly / liver enlargement (excluding storage disease) - Mediastinal / hilar adenopathies - Purpura / petichiae - Splenomegaly - Subcutaneous nodules / lipomas / tumefaction / swelling - Thrombocytopenia / thrombopenia Frequent - Lung / pulmonary infiltrates Occasional - Irregular / in bands / reticular skin hyperpigmentation - Retinopathy