Overview
14q12 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 antihelix morphology
Very frequent (80-99%)HP:0009738
Bulbous nose
Very frequent (80-99%)HP:0000414
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Feeding difficulties
Very frequent (80-99%)HP:0011968
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Growth deficiency
Very frequent (80-99%)HP:0001510
Inverted V-shaped upper lip
Very frequent (80-99%)HP:0010804
Loss of milestones
Very frequent (80-99%)HP:0002376
Mental retardation, severe
Very frequent (80-99%)HP:0010864
No speech development
Very frequent (80-99%)HP:0001344
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Protruding ear
Very frequent (80-99%)HP:0000411
Stimming
Very frequent (80-99%)HP:0000733
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Blepharophimosis
Frequent (30-79%)HP:0000581
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Flat philtrum
Frequent (30-79%)HP:0000319
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
Hunched back
Frequent (30-79%)HP:0002808
Increased size of mandible
Frequent (30-79%)HP:0000303
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Oversalivation
Frequent (30-79%)HP:0003781
Prominent frontal suture
Frequent (30-79%)HP:0005487
Seizures
Frequent (30-79%)HP:0001250
Small nose
Frequent (30-79%)HP:0003196
Swelling of eyelids
Frequent (30-79%)HP:0100540
Quick Facts
- SNOMED CT
- 719574007
- UMLS CUI
- C4305240
- Fully Specified Name
- 14q12 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.