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pontocerebellar hypoplasia type 2D | RareConnect | RareConnect.io

/pontocerebellar hypoplasia type 2

/pontocerebellar hypoplasia type 2D

pontocerebellar hypoplasia type 2D

Rare Disease

MONDO:0013438

Also Known As

SEPSECS non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECSpontocerebellar hypoplasia type 2DCerebellocerebral atrophy, progressivePCH2Dcerebello-cerebral atrophy, progressivepontocerebellar hypoplasia, type 2D

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS 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:613811 ↗

GARD

Related Diseases

pontocerebellar hypoplasia type 2A

MONDO:0010190

pontocerebellar hypoplasia type 2B

MONDO:0012890

pontocerebellar hypoplasia type 2C

MONDO:0012891

pontocerebellar hypoplasia, type 2F

MONDO:0014874

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