Overview
Monosomy 20q13.33 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 limb bone morphology
Very frequent (80-99%)HP:0002813
Dilated Virchow-Robin spaces
Very frequent (80-99%)HP:0012520
Dull intelligence
Very frequent (80-99%)HP:0001249
Low birth weight
Very frequent (80-99%)HP:0001518
Neurodevelopmental delay
Very frequent (80-99%)HP:0012758
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Very poor growth
Very frequent (80-99%)HP:0001510
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Epilepsy
Frequent (30-79%)HP:0001250
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Mongoloid slant
Frequent (30-79%)HP:0000582
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Short lower limbs
Frequent (30-79%)HP:0006385
Abnormality of cardiac ventricle
Occasional (5-29%)HP:0001713
Aplasia/Hypoplasia of the nipples
Occasional (5-29%)HP:0006709
Atony of facial musculature
Occasional (5-29%)HP:0000297
Atria septal defect
Occasional (5-29%)HP:0001631
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Bulbous nasal tip
Occasional (5-29%)HP:0000414
Decreased amniotic fluid index
Occasional (5-29%)HP:0001562
Decreased scrotal rugation
Occasional (5-29%)HP:0012858
Decreased volume of lip vermillion
Occasional (5-29%)HP:0000233
Delayed CNS myelination
Occasional (5-29%)HP:0002188
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Fallen arches
Occasional (5-29%)HP:0001763
Flat philtrum
Occasional (5-29%)HP:0000319
Foot, talipes equinovarus
Occasional (5-29%)HP:0001762
Hematochezia
Occasional (5-29%)HP:0002573
Hyperplastic helix crus
Occasional (5-29%)HP:0009899
Quick Facts
- SNOMED CT
- 733520002
- UMLS CUI
- C4518823
- Fully Specified Name
- 20q13.33 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.