RIDDLE syndrome (DOID:0090113)
Alliance: disease page
Synonyms: Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency
Alt IDs: OMIM:611943, ICD10CM:D82.8, MESH:C567453, ORDO:420741
Definition: An autosomal recessive disease that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.