Disease-gene associations mined from literature

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 ...