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Rhizomelic chondrodysplasia punctata, type 2

Rhizomelic chondrodysplasia punctata, type 2: Introduction

Rhizomelic chondrodysplasia punctata, type 2: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42. More detailed information about the symptoms, causes, and treatments of Rhizomelic chondrodysplasia punctata, type 2 is available below.

Symptoms of Rhizomelic chondrodysplasia punctata, type 2

Causes of Rhizomelic chondrodysplasia punctata, type 2

Read more about causes of Rhizomelic chondrodysplasia punctata, type 2.

Rhizomelic chondrodysplasia punctata, type 2: Broader Related Topics

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More information about Rhizomelic chondrodysplasia punctata, type 2

  1. Rhizomelic chondrodysplasia punctata, type 2: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
 

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