Term Name: | RIDDLE syndrome |
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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 ) |