sialidosis type 1
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0017734
sialidosis
is_a
MONDO:0031422
familial mucolipidosis
is_a
Normomorphic sialidosis
exact
cherry red spot myoclonus syndrome
related
cherry-red spot-myoclonus syndrome
exact
lipomucopolysaccharidosis
exact
myoclonus cherry red spot syndrome
related
normosomatic sialidosis
exact
sialidosis type I
related