Overview
9q21.13 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.
Cardiac anomaly
Very frequent (80-99%)HP:0001627
Cryptorchidism
Very frequent (80-99%)HP:0000028
Gait disturbance
Very frequent (80-99%)HP:0001288
GI dysmotility
Very frequent (80-99%)HP:0002579
Hydronephrosis
Very frequent (80-99%)HP:0000126
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Abnormal tongue morphology
Frequent (30-79%)HP:0030809
Delayed language development
Frequent (30-79%)HP:0000750
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Eye drop
Frequent (30-79%)HP:0000508
Growth delay as children
Frequent (30-79%)HP:0008897
Hypoplastic or absent corpus callosum
Frequent (30-79%)HP:0007370
Invaginated nipples
Frequent (30-79%)HP:0003186
Nasal ridge, wide
Frequent (30-79%)HP:0012811
Scoliosis
Frequent (30-79%)HP:0002650
Talipes foot deformities
Frequent (30-79%)HP:0001883
Wide palpebral fissure
Frequent (30-79%)HP:0000637
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Craniosyostosis
Occasional (5-29%)HP:0001363
Epilepsy
Occasional (5-29%)HP:0001250
Fluid-filled cyst in spinal cord
Occasional (5-29%)HP:0003396
Gray matter heterotopias
Occasional (5-29%)HP:0002282
Polydactyly
Occasional (5-29%)HP:0010442
Quick Facts
- SNOMED CT
- 1229875002
- UMLS CUI
- C5681312
- Fully Specified Name
- 9q21.13 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.