RIDDLE syndrome
Findings
No curated finding names RIDDLE syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An 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.
Definition from the Mondo Disease Ontology (MONDO:0012764), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chromosomal breakage induced by ionizing radiationHPOHP:0010997
- Very frequent (80% to 99% of cases)
- Decreased circulating IgA concentrationHPOHP:0002720
- Very frequent (80% to 99% of cases)
- Decreased circulating IgG concentrationHPOHP:0004315
- Very frequent (80% to 99% of cases)
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 33
- Recurrent sinusitisHPOHP:0011108
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Occasional (5% to 29% of cases)
- Abnormal pulmonary interstitial morphologyHPOHP:0006530
- Occasional (5% to 29% of cases)
- ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNF168HGNC:26661
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
2 names
Resolves to: RIDDLE syndrome
- Also called
- radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndromeRNF168 deficiency