Human genes for hypomyelinating leukodystrophy 9
Hypomyelinating leukodystrophy 9 [DOID:0060791]
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.
Synonyms: hypomyelinating leukodystrophy 9, DOID:0060791, HLD9, RARS-related autosomal recessive hypomyelinating leukodystrophy, RARSrelated autosomal recessive hypomyelinating leukodystrophy ...