Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature severe metaphyseal dysplasia and mild vertebral involvement) elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria?

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