RNF168

ring finger protein 168
OMIM: 612688
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RIDDLE syndrome 611943, RNF168 deficiency, Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity, Combined immunodeficiencies with associated or syndromic features