Overview
Monosomy 10p11.21p12.31 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.
Abnormal brain morphology
Very frequent (80-99%)HP:0012443
Behavioural/Psychiatric abnormality
Very frequent (80-99%)HP:0000708
Cardiac anomaly
Very frequent (80-99%)HP:0001627
Childhood attention deficit/hyperactivity disorder
Very frequent (80-99%)HP:0007018
Delayed language development
Very frequent (80-99%)HP:0000750
Delayed motor milestones
Very frequent (80-99%)HP:0001270
Dull intelligence
Very frequent (80-99%)HP:0001249
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Poor vision
Very frequent (80-99%)HP:0000505
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Aggression
Frequent (30-79%)HP:0000718
Big cheeks
Frequent (30-79%)HP:0000293
Constipation
Frequent (30-79%)HP:0002019
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Feeding difficulties
Frequent (30-79%)HP:0011968
Hypotonia, in neonatal onset
Frequent (30-79%)HP:0001319
Seizures
Frequent (30-79%)HP:0001250
Short palpebral fissure
Frequent (30-79%)HP:0012745
Squint
Frequent (30-79%)HP:0000486
Trouble sleeping
Frequent (30-79%)HP:0002360
Absent cupid's bow
Occasional (5-29%)HP:0010800
Aortic coarctation
Occasional (5-29%)HP:0001680
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Bicuspid aortic valve
Occasional (5-29%)HP:0001647
Bulbous nasal tip
Occasional (5-29%)HP:0000414
Choanal atresia
Occasional (5-29%)HP:0000453
Chorioretinal coloboma
Occasional (5-29%)HP:0000567
Coeliac disease
Occasional (5-29%)HP:0002608
Deep set eye
Occasional (5-29%)HP:0000490
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Quick Facts
- SNOMED CT
- 783061008
- UMLS CUI
- C5190804
- Fully Specified Name
- Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (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.