Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
A rare neurologic disease characterized by global developmental delay intellectual disability multiple ischemic lesions in brain MRI behavioral abnormalities dystonia choreic movements and pyramidal syndrome facial dysmorphism (hypertelorism arched palate macroglossia) retinitis pigmentosa scoliosis seizures.
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 April 2024
Newly diagnosed with
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa 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.
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.