GNPTG-mucolipidosis
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 II and mucolipidosis 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.
MONDO:0031422
familial mucolipidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
GNPTG-mucolipidosis
exact
ML 3 gamma
exact
ML III gamma
exact
mucolipidosis type 3 gamma
exact
mucolipidosis type III gamma
exact