DNAJC21

DnaJ heat shock protein family (Hsp40) member C21
OMIM: 617048
PanelMode of inheritanceDetails
3 panels
R-numbers: R91
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancytopaenia, Bone Marrow Failure, 617052 Bone marrow failure syndrome 3, Bone marrow failure syndrome 3, 617052
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure syndrome 3, OMIM:617052, Bone marrow failure syndrome 3, MONDO:0014887
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure syndrome 3, 617052, Shwachman-Diamond syndrome-like, Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure, Congenital defects of phagocyte number or function