Overview
5q14.3 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.
ASD
Very frequent (80-99%)HP:0000729
High forehead
Very frequent (80-99%)HP:0000348
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Seizures
Very frequent (80-99%)HP:0001250
Speech difficulties
Very frequent (80-99%)HP:0000750
Abnormal shape of nervous system
Frequent (30-79%)HP:0012639
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Mongoloid slant
Frequent (30-79%)HP:0000582
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Stimming
Frequent (30-79%)HP:0000733
Cerebellar vermis aplasia
Occasional (5-29%)HP:0002335
Deep set eye
Occasional (5-29%)HP:0000490
Feeding difficulties
Occasional (5-29%)HP:0011968
Frontal cortex degeneration
Occasional (5-29%)HP:0006913
Hypoplastic optic nerves
Occasional (5-29%)HP:0000609
Nostrils anteverted
Occasional (5-29%)HP:0000463
Slack jawed appearance
Occasional (5-29%)HP:0000194
Squint
Occasional (5-29%)HP:0000486
Syndactyly of feet
Occasional (5-29%)HP:0001770
Thick eyebrow
Occasional (5-29%)HP:0000574
Quick Facts
- SNOMED CT
- 719661007
- UMLS CUI
- C4304529
- Fully Specified Name
- 5q14.3 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.