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pontocerebellar hypoplasia type 1A | RareConnect | RareConnect.io

/pontocerebellar hypoplasia type 1

/pontocerebellar hypoplasia type 1A

pontocerebellar hypoplasia type 1A

Rare Disease

MONDO:0011866

Also Known As

VRK1 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in VRK1PCH1APch1pontocerebellar hypoplasia with anterior horn cell diseasepontocerebellar hypoplasia with infantile spinal muscular atrophypontocerebellar hypoplasia, type 1A

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 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:607596 ↗

GARD

Related Diseases

pontocerebellar hypoplasia type 1B

MONDO:0013853

pontocerebellar hypoplasia, type 1C

MONDO:0014485

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