Overview
Mosaic trisomy chromosome 12 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Low-set ears
Frequent (30-79%)HP:0000369
Muscular hypotonia
Frequent (30-79%)HP:0001252
Palpebronasal fold
Frequent (30-79%)HP:0000286
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Cardiac anomaly
Occasional (5-29%)HP:0001627
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Decreased body height
Occasional (5-29%)HP:0004322
Depigmentation/hyperpigmentation of skin
Occasional (5-29%)HP:0007483
Eyelid ptosis
Occasional (5-29%)HP:0000508
Hearing impairment
Occasional (5-29%)HP:0000365
Hernia
Occasional (5-29%)HP:0100790
Hydramnios
Occasional (5-29%)HP:0001561
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased width of the forehead
Occasional (5-29%)HP:0000337
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Linear Hyperpigmentation along Blaschko's lines
Occasional (5-29%)HP:6000010
Short neck
Occasional (5-29%)HP:0000470
Related Conditions
Quick Facts
- SNOMED CT
- 764463001
- UMLS CUI
- C4706889
- Fully Specified Name
- Mosaic trisomy 12 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.