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Definition

Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation.

Acronym

MLIIIA

Synonyms

Cariant pseudo-Hurler polydystrophy

Keywords

Mucolipidosis

 
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