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RIDDLE syndrome

Is a syndrome of increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. 

OTHER NAME(S): RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES

ABREVIATION(S):
RIDDLE

TYPE: mental retardation (MR), psychomotor impairment, sensitivity to radiation, facial anomalies, immunodeficiency

DNAtraffic protein(s) related to disease: RNF168

OMIM: 611943

Last modification date: Aug. 25, 2011