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rhizomelic chondrodysplasia punctata
Peroxisomal biogenesis disorder distinct from Zwellenger spectrum disorders.
Pathology:
- failure of protein import into the peroxisomal membrane or or peroxisomal matrix
Genetics:
- genetically heterogeneous with at least 14 distinct complementation groups
Specific
rhizomelic chondrodysplasia punctata, type 1 (complementation group 11)
rhizomelic chondrodysplasia punctata, type 14 (complementation group J)
rhizomelic chondrodysplasia punctata, type 2; peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
rhizomelic chondrodysplasia punctata, type 3
General
chondrodysplasia punctata
peroxisomal biogenesis disorder
References
- OMIM :accession 601539
OMIM :accession 600279
- UniProt :accession P40855