RIDDLE syndrome

Term ID

DOID:0090113

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. (3)

References

• ICD10CM:D82.8
• MESH:C567453
• MIM:611943
• ORDO:420741

Ontology

Human Disease   ( DOID:0090113 )