| Metadata | |
|---|---|
| ID | DOID:0080195 |
| Name | Marinesco-Sjogren syndrome |
| Definition | A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. https://www.omim.org/entry/248800?search=248800&highlight=248800, https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Garland-Moorhouse syndrome [EXACT] hereditary oligophrenic cerebello-lental degeneration [EXACT] Marinesco-Garland syndrome [EXACT] Oligophrenic cerebellolenticular degeneration [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some autosomal recessive inheritance has symptom some muscle weakness |