PropertyValue
?:definition
  • An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all