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Dysequilibrium syndrome
4 OMIM references -
4 associated genes
11 connected diseases
14 signs/symptoms
Disease Type of connection
Lissencephaly syndrome, Norman-Roberts type
Rare isolated myopia
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Familial lipoprotein lipase deficiency
Hyperlipoproteinemia type 5
Autosomal agammaglobulinemia
Pseudohypoaldosteronism type 2E
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
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 (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
1 MeSH reference: C535731
Gene symbol UniProt reference OMIM reference
ATP8A2 Q9NTI2605870
CA8 P35219114815
VLDLR P98155192977
WDR81 Q562E7614218
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