" /> Leukodystrophy, hypomyelinating, 11 - CISMeF





Preferred Label : Leukodystrophy, hypomyelinating, 11;

Symbol : HLD11;

CISMeF acronym : HLD11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 4h leukodystrophy 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA polymerase I, subunit C gene (POLR1C, 610060.0006);

Prefixed ID : #616494;

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26/05/2025


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