GTR Home > Conditions/Phenotypes > Peroxisome biogenesis disorder 9B

Summary

While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; 215100), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (266500) and patients carried this diagnosis. Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see 214100. [from OMIM]

Available tests

30 tests are in the database for this condition.

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  • Also known as: PBD9B, PTS2R, RCDP1, RD, PEX7
    Summary: peroxisomal biogenesis factor 7

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