Overview
12q14 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.
Decreased body height
Very frequent (80-99%)HP:0004322
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Poor weight gain
Very frequent (80-99%)HP:0001508
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Specific learning disability
Very frequent (80-99%)HP:0001328
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Osteopoikilosis
Frequent (30-79%)HP:0010739
Patchy darkened skin
Frequent (30-79%)HP:0000953
Tremor
Frequent (30-79%)HP:0001337
Abnormality of the spleen
Occasional (5-29%)HP:0001743
Bilateral fifth digit clinodactyly
Occasional (5-29%)HP:0004209
Chiari malformation
Occasional (5-29%)HP:0002308
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Convex bridge of nose
Occasional (5-29%)HP:0000426
Decreased size of cranium
Occasional (5-29%)HP:0000252
Decreased volume of lip vermillion
Occasional (5-29%)HP:0000233
Deformity of the nostrils
Occasional (5-29%)HP:0005288
Diabetes mellitus
Occasional (5-29%)HP:0000819
Downturned corners of mouth
Occasional (5-29%)HP:0002714
Ectopic kidney
Occasional (5-29%)HP:0000086
Enophthalmos
Occasional (5-29%)HP:0000490
Fluid-filled cyst in spinal cord
Occasional (5-29%)HP:0003396
Frontal protuberance
Occasional (5-29%)HP:0002007
Fused kidneys
Occasional (5-29%)HP:0000085
Hypoplastic mandible
Occasional (5-29%)HP:0000347
Increased nasal width
Occasional (5-29%)HP:0000445
Intestinal malrotation
Occasional (5-29%)HP:0002566
Inverted triangular face
Occasional (5-29%)HP:0000325
Quick Facts
- SNOMED CT
- 719046005
- UMLS CUI
- C4305140
- Fully Specified Name
- 12q14 microdeletion 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.