Term Name: hypomyelinating leukodystrophy 9
Synonyms: HLD9, RARS-related autosomal recessive hypomyelinating leukodystrophy
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.
Ontology: Human Disease [DOID:0060791]   ( DOID:0060791 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy