Overview
16q24.3 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.
Autism
Very frequent (80-99%)HP:0000717
High forehead
Very frequent (80-99%)HP:0000348
Prominent ear
Very frequent (80-99%)HP:0000411
Colpocephaly
Frequent (30-79%)HP:0030048
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Double ring sign
Frequent (30-79%)HP:0000609
Flat philtrum
Frequent (30-79%)HP:0000319
Frontal protuberance
Frequent (30-79%)HP:0002007
High arched palate
Frequent (30-79%)HP:0000218
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Increased length of philtrum
Frequent (30-79%)HP:0000343
Large mouth
Frequent (30-79%)HP:0000154
Moderate mental retardation
Frequent (30-79%)HP:0002342
Periventricular grey matter heterotopia
Frequent (30-79%)HP:0007165
Seizures
Frequent (30-79%)HP:0001250
Small pointed chin
Frequent (30-79%)HP:0000307
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Abnormal distribution of hair
Occasional (5-29%)HP:0010720
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Attachment of thumb close to wrist
Occasional (5-29%)HP:0009623
Chronic ear infection
Occasional (5-29%)HP:0000389
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Cryptorchidism
Occasional (5-29%)HP:0000028
Deafness
Occasional (5-29%)HP:0000365
Decreased width of the skull
Occasional (5-29%)HP:0004422
Deglutition disorder
Occasional (5-29%)HP:0002015
Feeding difficulties
Occasional (5-29%)HP:0011968
Hunched back
Occasional (5-29%)HP:0002808
Increased MCV
Occasional (5-29%)HP:0005518
Quick Facts
- SNOMED CT
- 719580004
- UMLS CUI
- C4304594
- Fully Specified Name
- 16q24.3 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.