Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cataract
Very frequent (80-99%)HP:0000518
Congenital muscular dystrophy
Very frequent (80-99%)HP:0003560
Corneal opacity
Very frequent (80-99%)HP:0007957
Dandy-Walker cyst
Very frequent (80-99%)HP:0001305
Decreased body height
Very frequent (80-99%)HP:0004322
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Glaucoma
Very frequent (80-99%)HP:0000501
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased amniotic fluid index
Very frequent (80-99%)HP:0001561
Increased nuchal translucency
Very frequent (80-99%)HP:0010880
Nanophthalmos
Very frequent (80-99%)HP:0000568
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Peritoneal effusion
Very frequent (80-99%)HP:0001541
Abnormality of vision
Frequent (30-79%)HP:0000504
Decreased size of cranium
Frequent (30-79%)HP:0000252
Eye disease
Frequent (30-79%)HP:0000478
Inverted triangular face
Frequent (30-79%)HP:0000325
Mental-retardation
Frequent (30-79%)HP:0001249
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Abnormal aortic morphology
Occasional (5-29%)HP:0001679
Abnormal skin colour
Occasional (5-29%)HP:0001000
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of immune system physiology
Occasional (5-29%)HP:0010978
Abnormality of the arm
Occasional (5-29%)HP:0002817
Abnormality of the skull bones
Occasional (5-29%)HP:0000929
Acute lymphocytic leukemia
Occasional (5-29%)HP:0006721
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Aortic coarctation
Occasional (5-29%)HP:0001680
Aortic valve regurgitation
Occasional (5-29%)HP:0001659
Apnea
Occasional (5-29%)HP:0002104
Related Conditions
Quick Facts
- SNOMED CT
- 700056005
- UMLS CUI
- C4551972
- Fully Specified Name
- Mosaic variegated aneuploidy 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.