hypomyelinating leukodystrophy 9 (DOID:0060791)
Alliance: disease page
Synonyms: HLD9; RARS-related autosomal recessive hypomyelinating leukodystrophy
Alt IDs: OMIM:616140, ICD10CM:E75.2, ORDO:438114
Definition: 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.