Overview
1p21.3 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.
Abnormal curving of the cornea or lens of the eye
Very frequent (80-99%)HP:0000483
Abnormal eating behaviour
Very frequent (80-99%)HP:0100738
Abnormality of vision
Very frequent (80-99%)HP:0000504
Cognitive delay
Very frequent (80-99%)HP:0001263
Dull intelligence
Very frequent (80-99%)HP:0001249
Long ears
Very frequent (80-99%)HP:0400004
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Near sighted
Very frequent (80-99%)HP:0000545
Obesity
Very frequent (80-99%)HP:0001513
Shyness
Very frequent (80-99%)HP:0100962
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Behavioral changes
Frequent (30-79%)HP:0000708
Big cheeks
Frequent (30-79%)HP:0000293
Broad, upturned nose
Frequent (30-79%)HP:0000455
Deep set eye
Frequent (30-79%)HP:0000490
Increased size of skull
Frequent (30-79%)HP:0000256
Mongoloid slant
Frequent (30-79%)HP:0000582
Small nose
Frequent (30-79%)HP:0003196
Speech delay
Frequent (30-79%)HP:0000750
Autoagression
Occasional (5-29%)HP:0100716
Hypoplastic mandible
Occasional (5-29%)HP:0000347
Joint instability
Occasional (5-29%)HP:0001382
Large mouth
Occasional (5-29%)HP:0000154
physical aggression
Occasional (5-29%)HP:0000718
Self-mutilation
Occasional (5-29%)HP:0000742
Quick Facts
- SNOMED CT
- 719600006
- UMLS CUI
- C4304578
- Fully Specified Name
- 1p21.3 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.