DISEASES

Disease-gene associations mined from literature

Human genes for RIDDLE syndrome

RIDDLE syndrome [DOID:0090113]

A syndrome 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.

Synonyms:  RIDDLE syndrome,  DOID:0090113,  RIDDLE disease,  RIDDLE disorder,  RIDDLE syndromes ...