Mucolipidosis type 3 (Q91326)
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Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1736525440 |
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| English | Mucolipidosis type 3 |
Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses. |
