DDX58

DExD/H-box helicase 58
OMIM: 609631
PanelMode of inheritanceDetails
1 panel
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.