Mondo Description Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.

Uniprot Description A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurs within the first two decades of life.