" /> Leukodystrophy, hypomyelinating, 4 - CISMeF





Preferred Label : Leukodystrophy, hypomyelinating, 4;

Symbol : HLD4;

CISMeF acronym : HLD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitchap60 disease; Mitochondrial hsp60 chaperonopathy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the heat-shock 60-Kd protein 1 gene (HSPD1, 118190.0002);

Laboratory abnormalities : Intermittent increase of urinary ethylmalonic acid; Serum lactate may be increased during encephalopathic exacerbations;

Prefixed ID : #612233;

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25/07/2025


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