OnlineIMD
X-linked dyskeratosis congenita
Type
Disease
External link(s)
IEMbase
Gene
DKC1
/ Dyskerin Pseudouridine Synthase 1
Xq28
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Dyskerin
Disease group(s)
16.5 Other disorders of ribosomal biogenesis