Overview
3p25.3 deletion 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.
No development of motor milestones
Very frequent (80-99%)HP:0001270
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Ear anomalies
Frequent (30-79%)HP:0000356
Flat nasal bridge
Frequent (30-79%)HP:0005280
Hyperplasia of nose
Frequent (30-79%)HP:0000448
Nonverbal
Frequent (30-79%)HP:0001344
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Prominent philtrum
Frequent (30-79%)HP:0002002
Speech and language difficulties
Frequent (30-79%)HP:0000750
Stimming
Frequent (30-79%)HP:0000733
2-3 finger cutaneous syndactyly
Occasional (5-29%)HP:0001233
Abnormal thalamus morphology
Occasional (5-29%)HP:0010663
Abnormally small eyeball
Occasional (5-29%)HP:0000568
Acromesomelia
Occasional (5-29%)HP:0003086
ASD
Occasional (5-29%)HP:0000729
Ataxia
Occasional (5-29%)HP:0001251
Atria septal defect
Occasional (5-29%)HP:0001631
Attachment of thumb close to wrist
Occasional (5-29%)HP:0009623
Blepharophimosis
Occasional (5-29%)HP:0000581
Broad big toe
Occasional (5-29%)HP:0010055
Broad thumbs
Occasional (5-29%)HP:0011304
Cerebral white matter atrophy
Occasional (5-29%)HP:0012762
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Clavicle pseudoarthrosis
Occasional (5-29%)HP:0006585
Cleft of palate
Occasional (5-29%)HP:0000175
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Decreased projection of lower jaw
Occasional (5-29%)HP:0000347
Decreased volume of upper lip
Occasional (5-29%)HP:0000219
Downturned corners of mouth
Occasional (5-29%)HP:0002714
Generalized myoclonic seizure
Occasional (5-29%)HP:0002123
Related Conditions
Quick Facts
- SNOMED CT
- 890123006
- UMLS CUI
- C5437630
- Fully Specified Name
- 3p25.3 deletion 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.