1 entry on 1 page. Showing entry 1.

10 per page 25 per page 50 per page 100 per page 250 per page 500 per page 1000 per page

ID	Abbreviation	Name	OMIM ID	Individuals	Phenotypes	Associated tissues	Disease features
00001	MPS-I	Mucopolysaccharidosis type I	607015	0	0	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).

10 per page 25 per page 50 per page 100 per page 250 per page 500 per page 1000 per page