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.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0017734
sialidosis
is_a
MONDO:0031422
familial mucolipidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
ML1
related
NEU 1 deficiency
related
NEU1 sialidosis
exact
dysmorphic sialidosis
exact
dysmorphic sialidosis with renal involvement
exact
infantile dysmorphic sialidosis
exact
mucolipidosis I
exact
mucolipidosis type 1
related
nephrosialidosis
exact
sialidosis
broad
sialidosis caused by mutation in NEU1
exact
sialidosis type II
exact
sialidosis, type 2
exact
sialidosis, type I
exact
sialidosis, type II
related