Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
MONDO:0002254
syndromic disease
is_a
MONDO:0020046
autosomal recessive degenerative and progressive cerebellar ataxia
is_a
MSS
broad
Marinesco-Sjogren syndrome
exact
Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism
related
Marinesco-Sjogren syndrome-myopathy
related
Marinesco-Sjogren-Garland syndrome
related
Marshall Smith Syndrome
exact
SPAC1071.03c