Overview
2q33.1 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.
Cognitive delay
Very frequent (80-99%)HP:0001263
No speech development
Very frequent (80-99%)HP:0001344
Behavioral symptoms
Frequent (30-79%)HP:0000708
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Cleft of palate
Frequent (30-79%)HP:0000175
Convex bridge of nose
Frequent (30-79%)HP:0000426
Decreased hair growth
Frequent (30-79%)HP:0008070
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Decreased size of cranium
Frequent (30-79%)HP:0000252
Decreased testicular size
Frequent (30-79%)HP:0008734
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Funny looking face
Frequent (30-79%)HP:0001999
Global developmental delay, severe
Frequent (30-79%)HP:0011344
High arched palate
Frequent (30-79%)HP:0000218
High forehead
Frequent (30-79%)HP:0000348
Hyperopia
Frequent (30-79%)HP:0000540
Mental retardation, severe
Frequent (30-79%)HP:0010864
Muscular hypotonia
Frequent (30-79%)HP:0001252
Nasogastric tube feeding in infancy
Frequent (30-79%)HP:0011470
physical aggression
Frequent (30-79%)HP:0000718
Protruding forehead
Frequent (30-79%)HP:0011220
Sialorrhea
Frequent (30-79%)HP:0002307
Tooth abnormalities
Frequent (30-79%)HP:0000164
Abnormal eye
Occasional (5-29%)HP:0000478
Abnormality of the auricle
Occasional (5-29%)HP:0000356
Abnormality of the hips
Occasional (5-29%)HP:0003272
Abnormality of the knee
Occasional (5-29%)HP:0002815
Agenesis of permanent teeth
Occasional (5-29%)HP:0006349
Big calvaria
Occasional (5-29%)HP:0000256
Bilateral crossbite
Occasional (5-29%)HP:0000689
Quick Facts
- SNOMED CT
- 763062006
- UMLS CUI
- C4706258
- Fully Specified Name
- 2q33.1 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.