Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cerebellar cortex degeneration
Always present (100%)HP:0008278
Congenital cataracts, bilateral
Always present (100%)HP:0000519
Infratentorial atrophy
Always present (100%)HP:0001272
Abnormal circulating aldolase concentration
Very frequent (80-99%)HP:0012400
Abnormal circulating LDH concentration
Very frequent (80-99%)HP:0045040
Abnormal levels of creatine kinase in blood
Very frequent (80-99%)HP:0040081
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Abnormality of the cerebellar vermis
Very frequent (80-99%)HP:0002334
Absent/small skeletal muscles
Very frequent (80-99%)HP:0001460
Ataxia
Very frequent (80-99%)HP:0001251
Central hypotonia
Very frequent (80-99%)HP:0001252
Decreased activity of gonads
Very frequent (80-99%)HP:0000135
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Dysphonia
Very frequent (80-99%)HP:0001618
Elevated serum creatine phosphokinase
Very frequent (80-99%)HP:0003236
Hypogenitalism
Very frequent (80-99%)HP:0003241
Lens opacities
Very frequent (80-99%)HP:0000518
Mental-retardation
Very frequent (80-99%)HP:0001249
Myopathy
Very frequent (80-99%)HP:0003198
Primary hypogonadism
Very frequent (80-99%)HP:0000815
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Short stature, severe
Very frequent (80-99%)HP:0003510
Small cerebellum
Very frequent (80-99%)HP:0001321
Specific learning disability
Very frequent (80-99%)HP:0001328
Squint
Very frequent (80-99%)HP:0000486
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Abnormalities of the fingers
Frequent (30-79%)HP:0001167
Brachydactyly
Frequent (30-79%)HP:0001156
Congenital muscular dystrophy
Frequent (30-79%)HP:0003560
Related Conditions
Early onset cerebellar ataxia(parent)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital cataract(parent)
Hereditary disorder of the visual system(parent)
Hereditary ataxia(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 80734006
- UMLS CUI
- C0024814
- Fully Specified Name
- Marinesco-Sjögren syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.