Mucolipidosis type III, alpha/beta
Mucolipidosis type III, alpha/beta
Definition
Mucolipidosis 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 alpha/beta, ML III alpha/beta, MLIII, mucolipidosis type 3 alpha/beta, mucolipidosis type III, Pseudo Hurler Polydystrophy, pseudo-Hurler polydystrophy — per MONDO