Overview
Ring chromosome 9 syndrome 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.
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed language development
Frequent (30-79%)HP:0000750
Increased length of philtrum
Frequent (30-79%)HP:0000343
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental-retardation
Frequent (30-79%)HP:0001249
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Thick eyebrow
Frequent (30-79%)HP:0000574
Very poor growth
Frequent (30-79%)HP:0001510
Depigmentation/hyperpigmentation of skin
Occasional (5-29%)HP:0007483
Epilepsy
Occasional (5-29%)HP:0001250
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Lingual protrusion
Occasional (5-29%)HP:0010808
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Scoliosis
Occasional (5-29%)HP:0002650
Quick Facts
- SNOMED CT
- 60650002
- UMLS CUI
- C0265430
- Fully Specified Name
- Ring chromosome 9 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.