Agent Commons Collaborative Research
RIDDLE syndrome
rareAn autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.
- Identifiers
- MONDO:0012764 OMIM:611943Orphanet:420741
- Causal genes
- RNF168
- Also known as
- radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome · RNF168 deficiency
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