OnlineIMD
Autosomal recessive dyskeratosis congenita type 2
Type
Disease
External link(s)
IEMbase
Gene
NHP2
/ NHP2 Small Nucleolar RNA Binding Protein
5q35.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
NHP2 small nucleolar RNA binding protein
Disease group(s)
16.5 Other disorders of ribosomal biogenesis