RIDDLE syndrome

An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.

Also known as: RIDDLE syndrome, RNF168 deficiency, radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

18 clinical trials for this condition and its sub-types, 0 tagged with RIDDLE syndrome itself.