Phenotypes for disease #02048 (Refsum (Refsum disease (deficiency, phytanic acid oxidase)), OMIM:266500)

3 entries on 1 page. Showing entries 1 - 3.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000082880 - - - Familial, autosomal recessive - - - - - Marta de Castro-MirĂ³ 00104991
0000128023 - Refsume syndrome - Familial, autosomal recessive - - - - - Dror Sharon 00155523
0000245755 - retinitis pigmentosa RP3 Familial, X-linked recessive - - - - - Johan den Dunnen 00327466
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