" /> Leukodystrophy, hypomyelinating, 5 - CISMeF





Preferred Label : Leukodystrophy, hypomyelinating, 5;

Symbol : HLD5;

CISMeF acronym : HLD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomyelination and congenital cataract: hcc;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 126 gene, member A gene (FAM126A, 610531.0001);

Prefixed ID : #610532;

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25/07/2025


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