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10q22.3q23.3 microduplication syndrome

disorder
SNOMED 782669004CUI C5190512

Overview

10q22.3q23.3 microduplication 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.

Deep set eye
Very frequent (80-99%)HP:0000490
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the philtrum
Frequent (30-79%)HP:0000288
Ambiguous external genitalia
Frequent (30-79%)HP:0000062
Decreased size of cranium
Frequent (30-79%)HP:0000252
Difficulty finding words
Frequent (30-79%)HP:0002381
Hyperplasia of cheeks
Frequent (30-79%)HP:0000293
Hypospadias
Frequent (30-79%)HP:0000047
Increased width of the forehead
Frequent (30-79%)HP:0000337
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mongoloid slant
Frequent (30-79%)HP:0000582
Ocular hypotelorism
Frequent (30-79%)HP:0000601
Poor school performance
Frequent (30-79%)HP:0001249
Retromicrognathia
Frequent (30-79%)HP:0000308
Squint
Frequent (30-79%)HP:0000486
Tooth abnormalities
Frequent (30-79%)HP:0000164
Abnormal clavicles
Occasional (5-29%)HP:0000889
Chronic ear infection
Occasional (5-29%)HP:0000389
Low-set ears
Occasional (5-29%)HP:0000369
Rib anomalies
Occasional (5-29%)HP:0000772
Tetrology of fallot
Occasional (5-29%)HP:0001636

Quick Facts

SNOMED CT
782669004
UMLS CUI
C5190512
Fully Specified Name
10q22.3q23.3 microduplication 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.