Overview
Monosomy 13q14 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.
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Mental-retardation
Very frequent (80-99%)HP:0001249
Prominent nasal root
Very frequent (80-99%)HP:0000426
Thickened helices
Very frequent (80-99%)HP:0000391
Abnormal dermatoglyphics
Frequent (30-79%)HP:0007477
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormally small eyeball
Frequent (30-79%)HP:0000568
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Brachydactyly
Frequent (30-79%)HP:0001156
Cataract
Frequent (30-79%)HP:0000518
Eyelid ptosis
Frequent (30-79%)HP:0000508
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Iris coloboma
Frequent (30-79%)HP:0000612
Low-set ears
Frequent (30-79%)HP:0000369
Muscular hypotonia
Frequent (30-79%)HP:0001252
Palpebronasal fold
Frequent (30-79%)HP:0000286
Partial syndactyly
Frequent (30-79%)HP:0006101
Prominent ear
Frequent (30-79%)HP:0000411
Retinoblastoma
Frequent (30-79%)HP:0009919
Short neck
Frequent (30-79%)HP:0000470
Triangular head shape
Frequent (30-79%)HP:0000243
Abnormality of the gastrointestinal tract
Occasional (5-29%)HP:0011024
Aplastic/hypoplastic thumbs
Occasional (5-29%)HP:0009601
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Pterygium colli
Occasional (5-29%)HP:0000465
Single brain ventricle
Occasional (5-29%)HP:0001360
Quick Facts
- SNOMED CT
- 770566002
- UMLS CUI
- C4749304
- Fully Specified Name
- Monosomy 13q14 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.