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Definition

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.

Acronym

HLD4

Synonyms

MitCHAP60 disease
MitCHAP-60 disease
Mitochondrial HSP60 chaperonopathy

Keywords

Leukodystrophy

 
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