AICAR transformylase/IMP cyclohydrolase deficiency

Symptoms of AICAR transformylase/IMP cyclohydrolase deficiency

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of AICAR transformylase/IMP cyclohydrolase deficiency

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)1 ...

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Names and Terminology

Synonyms: AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY (1 patient) ; AICA-RIBOSURIA DUE TO ATIC DEFICIENCY ; ATIC DEFICIENCY ...Source: GTR (NCBI/NIH)2 ...

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References

  1. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1837530/ 
  2. ibid.

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