Retinal dystrophy with leukodystrophy
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Sign InDescription
Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism (Ferdinandusse et al., 2017).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
3