Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Orpha code: 314572OMIM code:

Definition

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.

Disease data
Classification

Disease

ORPHA code
314572
OMIM code
-
ICD10 code
I67.8
ICD11 code
-

No additional description.

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