Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Synonyms: Poretti-Boltshauser syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.