OnlineIMD
Nucleophosmin 1 deficiency
Synonym(s)
NPM1-related dyskeratosis congenita
Type
Disease
External link(s)
IEMbase
Gene
NPM1
/ Nucleophosmin 1
5q35.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Nucleophosmin
Disease group(s)
16.5 Other disorders of ribosomal biogenesis