Cellosaurus Disease Terminology
Cellosaurus Terminology
Syndrome
Scheie Syndrome
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.
C0026708
C61265
Cellosaurus
Disease or Syndrome
MPS I S
Scheie Syndrome
Scheie Syndrome
Scheie_Syndrome
Mucopolysaccharidosis Type I