Term Name: hypomyelinating leukodystrophy 15
Synonyms: HLD15
Definition: A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41.
Ontology: Human Disease [DOID:0070398]   ( DOID:0070398 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy