Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
rhizomelic chondrodysplasia punctata type 1
MONDO:0008972
rhizomelic chondrodysplasia punctata type 3
MONDO:0010823
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
MONDO:0100265