Overview
14q11.2 microduplication 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.
Neurodevelopmental delay
Very frequent (80-99%)HP:0012758
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dull intelligence
Frequent (30-79%)HP:0001249
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Hyperphagia
Frequent (30-79%)HP:0002591
Obesity
Frequent (30-79%)HP:0001513
physical aggression
Frequent (30-79%)HP:0000718
Acanthosis nigricans
Occasional (5-29%)HP:0000956
Autism
Occasional (5-29%)HP:0000717
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Cupid-bow shaped upper lip
Occasional (5-29%)HP:0002263
Epilepsy
Occasional (5-29%)HP:0001250
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Flat nasal bridge
Occasional (5-29%)HP:0005280
Horizontal nystagmus
Occasional (5-29%)HP:0000666
Hypoplastic mandible
Occasional (5-29%)HP:0000347
Hypothyroidism
Occasional (5-29%)HP:0000821
Increased distance between eyes
Occasional (5-29%)HP:0000316
Palpebronasal fold
Occasional (5-29%)HP:0000286
Slurred speech
Occasional (5-29%)HP:0001350
Thick, flared eyebrows
Occasional (5-29%)HP:0002553
Trouble sleeping
Occasional (5-29%)HP:0002360
Related Conditions
Quick Facts
- SNOMED CT
- 771341006
- UMLS CUI
- C4749855
- Fully Specified Name
- 14q11.2 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.