RIDDLE syndrome
RIDDLE syndrome
Definition
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 radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, RIDDLE syndrome, RNF168 deficiency — per MONDO