Riddle syndrome

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. ...1

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Symptoms of Riddle syndrome

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Riddle syndrome

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)2 ...

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Names and Terminology

Synonyms: RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES ...Source: GTR (NCBI/NIH)3 ...

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References

  1. Source: Disease Ontology
  2. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C2677792/ 
  3. ibid.

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