Mucolipidosis type II

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Name:
Mucolipidosis type II
Description:
A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.
ORPHAcode:
576
Synonyms:
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14