hypomyelinating leukodystrophy 9

A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.

Signs and symptoms

• Mild intellectual disability
• Nystagmus
• Global developmental delay
• Lower limb spasticity
• Ataxia
• Leukodystrophy
• Hyperreflexia
• Cerebral atrophy
• Hypoplasia of the corpus callosum
• Abnormality of extrapyramidal motor function

Also known as: HLD9; RARS-related autosomal recessive hypomyelinating leukodystrophy