has material basis in germline mutation in RNF168 RIDDLE syndrome https://www.malacards.org/card/riddle_syndrome NANDO:1200336 radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties Orphanet:420741 DOID:0090113 OMIM:611943 MONDO:0012764 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. RIDDLE syndrome RNF168 deficiency MESH:C567453 MEDGEN:394368 NANDO:2200710 radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome UMLS:C2677792 GARD:0017701 autosomal recessive cerebellar ataxia