Overview
Trisomy 17 mosaicism 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.
2 vessel cord
Frequent (30-79%)HP:0001195
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Deafness
Frequent (30-79%)HP:0000365
Decreased size of cranium
Frequent (30-79%)HP:0000252
Epilepsy
Frequent (30-79%)HP:0001250
Growth delay as children
Frequent (30-79%)HP:0008897
Increased distance between eyes
Frequent (30-79%)HP:0000316
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental-retardation
Frequent (30-79%)HP:0001249
Muscular hypotonia
Frequent (30-79%)HP:0001252
Retromicrognathia
Frequent (30-79%)HP:0000308
Small cerebellum
Frequent (30-79%)HP:0001321
Small for gestational age infant
Frequent (30-79%)HP:0001511
Speech difficulties
Frequent (30-79%)HP:0000750
VSD
Frequent (30-79%)HP:0001629
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Cystic hygroma of the neck
Occasional (5-29%)HP:0000476
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Inguinal hernia
Occasional (5-29%)HP:0000023
Left and right leg differ in length or width
Occasional (5-29%)HP:0100559
Quick Facts
- SNOMED CT
- 764622004
- UMLS CUI
- C1096168
- Fully Specified Name
- Mosaic trisomy 17 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.