Hurler syndrome

Disease Export to PDF
Name:
Hurler syndrome
Description:
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
ORPHAcode:
93473
Synonyms:
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14