/hypomyelinating leukodystrophy 11

hypomyelinating leukodystrophy 11

Rare Disease

MONDO:0014666

Also Known As

HLD11POLR1C leukodystrophyhypomyelinating leukodystrophy type 11leukodystrophy caused by mutation in POLR1Cleukodystrophy, hypomyelinating, type 11leukodystrophy, hypomyelinating, 11

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.

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Associated Genes

POLR1C ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:616494 ↗

GARD

GARD:18088 ↗

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