MGC-SPB
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ID
Abbreviation
Name
OMIM ID
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00001
MPS-I
Mucopolysaccharidosis type I
607015
0
0
IDUA
face
Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). Vocal cords can also enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).
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Leiden University Medical Center