Mucolipidosis type III, alpha/beta
MONDO:0018931Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
Also known as: ML 3, ML3, mucolipidosis 3, mucolipidosis III, ML 3 alpha/beta, ML III alpha/beta, MLIII, Pseudo Hurler Polydystrophy
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