/asphyxiating thoracic dystrophy 5

asphyxiating thoracic dystrophy 5

Rare Disease

MONDO:0013717

Also Known As

ATD5Jeune syndrome caused by mutation in WDR19SRTD5WDR19 Jeune syndromeasphyxiating thoracic dystrophy 5asphyxiating thoracic dystrophy type 5short-rib thoracic dysplasia 5 with or without polydactyly

Definition

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.

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Associated Genes

WDR19 ↗

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

External Resources

OMIM

OMIM:614376 ↗

GARD

GARD:15795 ↗

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