Term Name: RIDDLE syndrome
Synonyms: Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, RNF168 deficiency
Definition: 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.
Ontology: Human Disease [DOID:0090113]   ( DOID:0090113 )

Relationships
is a type of: autosomal recessive disease syndrome