Catalog

Progressive neurodegeneration - joint laxity - cataract

No MMS code

Link to WHO Definition

Progressive neurodegeneration - joint laxity - cataract – http://id.who.int/icd/entity/327253455

This syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. It has been described in two siblings. Paradoxical hyperammonemia with hypoprolinaemia and hyperornithinemia were also reported. This syndrome is caused by delta 1-pyrroline 5-carboxylate synthetase deficiency.