RIDDLE syndrome: 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.
... More on Riddle syndrome »
Symptoms of Riddle syndrome
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of head or neck
- Craniofacial Abnormalities
- Abnormality of metabolism/homeostasis
- Increased sensitivity to ionizing radiation
- Abnormality of the immune system
- Abnormality of the integument
- Dry skin
- Abnormality of the nervous system ...
Genetics of Riddle syndrome
Modes of inheritance:
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
...Source: GTR (NCBI/NIH)2
... More on Genetics of Riddle syndrome »
Names and Terminology
RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES
...Source: GTR (NCBI/NIH)3
... More General Information on Riddle syndrome »
• • •
• • •
Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.