Overview
14q11.2 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.
Cupid-bow shaped upper lip
Very frequent (80-99%)HP:0002263
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Severe psychomotor retardation
Very frequent (80-99%)HP:0011344
Blepharophimosis
Frequent (30-79%)HP:0000581
Depressed philtrum
Frequent (30-79%)HP:0002002
Enophthalmos
Frequent (30-79%)HP:0000490
High arched palate
Frequent (30-79%)HP:0000218
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Increased width of the forehead
Frequent (30-79%)HP:0000337
Laterally sparse eyebrows
Frequent (30-79%)HP:0005338
Narrow mouth
Frequent (30-79%)HP:0000160
Nevocellular nevi
Frequent (30-79%)HP:0000995
Palpebronasal fold
Frequent (30-79%)HP:0000286
PDA
Frequent (30-79%)HP:0001643
Sloping forehead
Frequent (30-79%)HP:0000340
Syndactyly of feet
Frequent (30-79%)HP:0001770
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Toe curvature
Frequent (30-79%)HP:0001863
VSD
Frequent (30-79%)HP:0001629
Quick Facts
- SNOMED CT
- 719047001
- UMLS CUI
- C4304999
- Fully Specified Name
- 14q11.2 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.