Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

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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 March 2024

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Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome?

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Clinical Trials

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