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hypomyelinating leukodystrophy 12 | RareConnect | RareConnect.io

/leukodystrophy

/VPS11-related neurological disorder

/hypomyelinating leukodystrophy 12

hypomyelinating leukodystrophy 12

Rare Disease

MONDO:0014732

Also Known As

HLD12VPS11 leukodystrophyVPS11-related autosomal recessive hypomyelinating leukoencephalopathyhypomyelinating leukodystrophy type 12leukodystrophy caused by mutation in VPS11leukodystrophy, hypomyelinating, 12leukodystrophy, hypomyelinating, type 12VPS11-related autosomal recessive hypomyelinating leukodystrophy

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

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

External Resources

OMIM

OMIM:616683 ↗

Orphanet

Orphanet:466934 ↗

GARD

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