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Rhizomelic Chondrodysplasia Punctata Type 2
A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
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Overview
A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.