Mucolipidosis type III alpha/beta

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Name:
Mucolipidosis type III alpha/beta
Description:
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.
ORPHAcode:
423461
Synonyms:
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14