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Ehlers-Danlos syndrome, spondylodysplastic type, 2 | RareConnect | RareConnect.io

/Ehlers-Danlos syndrome, spondylodysplastic type

/B3GALT6-congenital disorder of glycosylation

/Ehlers-Danlos syndrome, spondylodysplastic type, 2

Ehlers-Danlos syndrome, spondylodysplastic type, 2

Rare Disease

MONDO:0014139

Also Known As

B3GALT6 Ehlers-Danlos syndrome progeroid typeB3GALT6-related spEDSB3GALT6-related spondylodysplastic EDSBeta3GalT6-deficient EDSEDSP2EDSSPD2Ehlers-Danlos syndrome progeroid type 2Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6Ehlers-Danlos syndrome, progeroid type, 2Ehlers-Danlos syndrome, spondylodysplastic type, 2spEDS-B3GALT6Ehlers-Danlos syndrome, progeroid type, 2, formerly

Definition

Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 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:615349 ↗

Orphanet

Orphanet:536467 ↗

GARD

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