7q11.23 microduplication syndrome

disorder

SNOMED 726707004CUI C4512054

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Abnormal earlobe morphology

Frequent (30-79%)HP:0000363

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Angle class 2 malocclusion

Frequent (30-79%)HP:0000689

Aortic aneurysm

Frequent (30-79%)HP:0004942

Big calvaria

Frequent (30-79%)HP:0000256

Broad, upturned nose

Frequent (30-79%)HP:0000455

Chronic constipation

Frequent (30-79%)HP:0012450

Cortical gyral simplification

Frequent (30-79%)HP:0009879

Craniosyostosis

Frequent (30-79%)HP:0001363

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Deep set eye

Frequent (30-79%)HP:0000490

Diaphragmatic hernia

Frequent (30-79%)HP:0000776

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Gaps between teeth

Frequent (30-79%)HP:0000699

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

High arched palate

Frequent (30-79%)HP:0000218

hyperkinetic disorder

Frequent (30-79%)HP:0000752

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Increased width of the forehead

Frequent (30-79%)HP:0000337

Malformation of face

Frequent (30-79%)HP:0001999

Malformation of the columella

Frequent (30-79%)HP:0009929

Mental retardation, mild

Frequent (30-79%)HP:0001256

Moderate mental retardation

Frequent (30-79%)HP:0002342

Morphological abnormality of the CNS

Frequent (30-79%)HP:0002011

Narrow head shape

Frequent (30-79%)HP:0000268

No development of motor milestones

Frequent (30-79%)HP:0001270

Related Conditions

7q partial trisomy(parent)

Quick Facts

SNOMED CT: 726707004
UMLS CUI: C4512054
Fully Specified Name: 7q11.23 microduplication 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.