Overview
2p21 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.
Central hypotonia
Very frequent (80-99%)HP:0001252
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Cystinuria
Very frequent (80-99%)HP:0003131
Decreased activity of gonads
Very frequent (80-99%)HP:0000135
Frontal protuberance
Very frequent (80-99%)HP:0002007
Growth deficiency
Very frequent (80-99%)HP:0001510
Hypernasal voice
Very frequent (80-99%)HP:0001611
Increased length of eyelashes
Very frequent (80-99%)HP:0000527
Kidney stones
Very frequent (80-99%)HP:0000787
Mitochondrial respiratory chain defects
Very frequent (80-99%)HP:0200125
Moderate mental retardation
Very frequent (80-99%)HP:0002342
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Lacticacidosis
Frequent (30-79%)HP:0003128
Low blood calcium levels
Frequent (30-79%)HP:0002901
Seizures
Frequent (30-79%)HP:0001250
Decreased fetal movement
Occasional (5-29%)HP:0001558
Low blood sugar
Occasional (5-29%)HP:0001943
Quick Facts
- SNOMED CT
- 719652007
- UMLS CUI
- C4304537
- Fully Specified Name
- 2p21 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.