" /> Rhizomelic Chondrodysplasia Punctata - CISMeF





Preferred Label : Rhizomelic Chondrodysplasia Punctata;

NCIt related terms : Rhizomelic Chondrodysplasia Punctata Syndrome; Rhizomelic Dwarfism;

NCIt definition : An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.;

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30/07/2025


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