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ataxia – intellectual disability – oculomotor apraxia – cerebellar cysts syndrome

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Disease Overview

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

Synonyms

  • PORETTI-Boltshauser syndrome
  • PTBHS
  • Poretti-Boltshauser syndrome
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
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