Sialidosis type 2

A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.

Also known as: sialidosis, NEU1 sialidosis, dysmorphic sialidosis, dysmorphic sialidosis with renal involvement, infantile dysmorphic sialidosis, mucolipidosis I, nephrosialidosis, sialidosis caused by mutation in NEU1

0 clinical trials for this condition and its sub-types, 0 tagged with Sialidosis type 2 itself.