pontocerebellar hypoplasia type 2D

Summary
Definition
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
Super Class
autosomal recessive disease pontocerebellar hypoplasia type 2
External Links
Disease Ontology
DOID:0060270
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 28 in total
Gene ID Gene Symbol Description Source
412 STS steroid sulfatase
523 ATP6V1A ATPase H+ transporting V1 subunit A
1605 DAG1 dystroglycan 1
1718 DHCR24 24-dehydrocholesterol reductase
1743 DLST dihydrolipoamide S-succinyltransferase
2218 FKTN fukutin
3339 HSPG2 heparan sulfate proteoglycan 2
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5095 PCCA propionyl-CoA carboxylase subunit alpha
5096 PCCB propionyl-CoA carboxylase subunit beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024