17q11.2 microduplication syndrome

disorder

SNOMED 719583002CUI C3495679

Overview

17q11.2 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.

Baldness

Always present (100%)HP:0002293

Decreased volume of upper lip

Always present (100%)HP:0000219

Notched tip of nose

Always present (100%)HP:0000456

Abnormal tooth enamel

Frequent (30-79%)HP:0000682

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Enamel, underdeveloped

Frequent (30-79%)HP:0006297

Mental deficiency

Frequent (30-79%)HP:0001249

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Bilateral cleft lip

Occasional (5-29%)HP:0100336

Brisk deep tendon reflexes

Occasional (5-29%)HP:0001348

Cafe-au-lait spots

Occasional (5-29%)HP:0000957

Cleft nose

Occasional (5-29%)HP:0011803

Decreased volume of lip vermillion

Occasional (5-29%)HP:0000233

Deviated nasal septum

Occasional (5-29%)HP:0004411

High arched palate

Occasional (5-29%)HP:0000218

Hypospadias

Occasional (5-29%)HP:0000047

Hypotrophic malar bone

Occasional (5-29%)HP:0000272

Increased size of skull

Occasional (5-29%)HP:0000256

Iris coloboma

Occasional (5-29%)HP:0000612

Large testis

Occasional (5-29%)HP:0000053

Mitral valve prolapse

Occasional (5-29%)HP:0001634

More grooves in brain

Occasional (5-29%)HP:0002126

Pectus excavatum

Occasional (5-29%)HP:0000767

Right and left cleft palate

Occasional (5-29%)HP:0100337

Seizures

Occasional (5-29%)HP:0001250

Sparse eyebrow

Occasional (5-29%)HP:0045075

Speech delay

Occasional (5-29%)HP:0000750

Thickening of the alae nasi

Occasional (5-29%)HP:0009928

Thin eyelashes

Occasional (5-29%)HP:0000653

Related Conditions

Autosomal dominant hereditary disorder(parent)

17q partial trisomy syndrome(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719583002
UMLS CUI: C3495679
Fully Specified Name: 17q11.2 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.