Overview
15q14 microdeletion 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.
Moderate mental retardation
Always present (100%)HP:0002342
Peripheral hypotonia
Always present (100%)HP:0001252
Posteriorly angulated ears
Always present (100%)HP:0000358
Recurrent viral upper respiratory tract infections
Always present (100%)HP:0033166
Cleft of palate
Very frequent (80-99%)HP:0000175
Decreased body height
Very frequent (80-99%)HP:0004322
Delayed language development
Very frequent (80-99%)HP:0000750
Dull intelligence
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Biparietal narrowing
Frequent (30-79%)HP:0004422
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deep set eye
Frequent (30-79%)HP:0000490
Flat philtrum
Frequent (30-79%)HP:0000319
Narrow forehead
Frequent (30-79%)HP:0000341
Small pointed chin
Frequent (30-79%)HP:0000307
Acne
Occasional (5-29%)HP:0001061
Atria septal defect
Occasional (5-29%)HP:0001631
Autism
Occasional (5-29%)HP:0000717
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Hooked nose
Occasional (5-29%)HP:0000444
Hunched back
Occasional (5-29%)HP:0002808
Immune deficiency
Occasional (5-29%)HP:0002721
Increased length of philtrum
Occasional (5-29%)HP:0000343
Inguinal hernia
Occasional (5-29%)HP:0000023
Laryngomalacia
Occasional (5-29%)HP:0001601
Low-set ears
Occasional (5-29%)HP:0000369
Prominent nasal root
Occasional (5-29%)HP:0000426
Seizures
Occasional (5-29%)HP:0001250
Tooth abnormalities
Occasional (5-29%)HP:0000164
Quick Facts
- SNOMED CT
- 719575008
- UMLS CUI
- C4305230
- Fully Specified Name
- 15q14 microdeletion 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.