Overview
6p22 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.
Abnormality of the skull bones
Very frequent (80-99%)HP:0000929
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Abnormal shape of nervous system
Frequent (30-79%)HP:0012639
Curvature of digit
Frequent (30-79%)HP:0030084
Deep set eye
Frequent (30-79%)HP:0000490
Hernia
Frequent (30-79%)HP:0100790
Hydronephrosis
Frequent (30-79%)HP:0000126
Low-set ears
Frequent (30-79%)HP:0000369
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Overfolded helix
Frequent (30-79%)HP:0000396
Palpebronasal fold
Frequent (30-79%)HP:0000286
Partial syndactyly
Frequent (30-79%)HP:0006101
PDA
Frequent (30-79%)HP:0001643
Short neck
Frequent (30-79%)HP:0000470
Squint
Frequent (30-79%)HP:0000486
Abnormal palate morphology
Occasional (5-29%)HP:0000174
Genital abnormalities
Occasional (5-29%)HP:0000078
Hearing impairment
Occasional (5-29%)HP:0000365
Loose redundant skin
Occasional (5-29%)HP:0001582
Ocular hypotelorism
Occasional (5-29%)HP:0000601
Quick Facts
- SNOMED CT
- 719662000
- UMLS CUI
- C4304528
- Fully Specified Name
- 6p22 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.