Overview
2p15p16.1 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.
Blepharophimosis
Very frequent (80-99%)HP:0000581
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Double ring sign
Very frequent (80-99%)HP:0000609
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Flat philtrum
Very frequent (80-99%)HP:0000319
High arched palate
Very frequent (80-99%)HP:0000218
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Moderate mental retardation
Very frequent (80-99%)HP:0002342
Narrow mouth
Very frequent (80-99%)HP:0000160
Optic atrophy
Very frequent (80-99%)HP:0000648
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Prominent nasal root
Very frequent (80-99%)HP:0000426
Speech difficulties
Very frequent (80-99%)HP:0000750
Autism
Frequent (30-79%)HP:0000717
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Central hypotonia
Frequent (30-79%)HP:0001252
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Hydronephrosis
Frequent (30-79%)HP:0000126
Impaired vision
Frequent (30-79%)HP:0000505
Increased length of eyelashes
Frequent (30-79%)HP:0000527
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Large tip of nose
Frequent (30-79%)HP:0005274
Low-set ears
Frequent (30-79%)HP:0000369
Narrow forehead
Frequent (30-79%)HP:0000341
Quick Facts
- SNOMED CT
- 719651000
- UMLS CUI
- C4304538
- Fully Specified Name
- 2p15p16.1 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.