autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
MONDO:0017804Mondo
Findings
No curated finding names autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is 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.
Definition from the Mondo Disease Ontology (MONDO:0017804), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of