Marinesco-Sjogren syndrome
Findings
No curated finding names Marinesco-Sjogren syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009567), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- 7 of 7 reported patients
- Cerebellar cortical atrophyHPOHP:0008278
- 19 of 19 reported patients
- Developmental cataractHPOHP:0000519
- 30 of 30 reported patients
- Global developmental delayHPOHP:0001263
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 39
- Abnormal circulating creatine kinase activityHPOHP:0040081
- Very frequent (80% to 99% of cases)
- Abnormal circulating lactate dehydrogenase concentrationHPOHP:0045040
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia involving the skeletal musculatureHPOHP:0001460
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SIL1HGNC:24624
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Marinesco-Sjogren syndrome
- Also called
- Marshall Smith Syndrome