Phytanic acid storage disease

Symptoms of Phytanic acid storage disease

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Phytanic acid storage disease

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

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Names and Terminology

Synonyms: Disorder of cornification 11 (phytanic acid type) ; Doc 11 (phytanic acid type) ; HMSN 4 ; HMSN IV ; Herditary sensory and motor neuropathy type 4 ; Heredopathia atactica polyneuritiformis ...2

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References

  1. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0034960/ 
  2. ibid.

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