Mucolipidosis type III gamma

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Synonyms: ML 3 gamma | ML III gamma | Mucolipidosis type 3 gamma

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease that has most often been observed in the Middle East characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders hips and finger joints; a gradual mild coarsening of facial features; and by a slower progression milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood but ultimately succumb to cardiorespiratory insufficiency.

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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Mucolipidosis type III gamma?

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