Overview
Ring 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.
Deformity of face
Always present (100%)HP:0001999
Psychomotor development deficiency
Always present (100%)HP:0001263
Retarded growth
Always present (100%)HP:0001510
Abnormal dermatoglyphics
Frequent (30-79%)HP:0007477
Clinodactyly
Frequent (30-79%)HP:0030084
Decreased size of cranium
Frequent (30-79%)HP:0000252
Abnormality of the 5th finger
Occasional (5-29%)HP:0004207
Acne
Occasional (5-29%)HP:0001061
Cryptorchidism
Occasional (5-29%)HP:0000028
Dystrophic toenails
Occasional (5-29%)HP:0001810
Esotropia
Occasional (5-29%)HP:0000565
Fused thumb bones
Occasional (5-29%)HP:0009656
Glanular hypospadias
Occasional (5-29%)HP:0000807
Hemangiomata
Occasional (5-29%)HP:0001028
Hirsutism
Occasional (5-29%)HP:0001007
Hypothyroidism
Occasional (5-29%)HP:0000821
Increased lumbar lordosis
Occasional (5-29%)HP:0002938
Low birth weight
Occasional (5-29%)HP:0001518
Low-set ears
Occasional (5-29%)HP:0000369
Microtia
Occasional (5-29%)HP:0008551
Narrow, high-arched roof of mouth
Occasional (5-29%)HP:0002705
Patent ostium secundum
Occasional (5-29%)HP:0001684
Pectus excavatum
Occasional (5-29%)HP:0000767
Pterygium colli
Occasional (5-29%)HP:0000465
Syndactyly
Occasional (5-29%)HP:0001159
Underdeveloped breasts
Occasional (5-29%)HP:0003187
Uterine fibroid
Occasional (5-29%)HP:0000131
Quick Facts
- SNOMED CT
- 770595006
- UMLS CUI
- C5201040
- Fully Specified Name
- Ring chromosome 12 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.