Trisomy 11p15.4

disorder

SNOMED 770794008CUI C4749508

Overview

Trisomy 11p15.4 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.

Aggression

Frequent (30-79%)HP:0000718

Behavioural disorders

Frequent (30-79%)HP:0000708

Funny looking face

Frequent (30-79%)HP:0001999

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental deficiency

Frequent (30-79%)HP:0001249

Speech and language difficulties

Frequent (30-79%)HP:0000750

Appendicular hypotonia

Occasional (5-29%)HP:0012389

Disproportionately large hands

Occasional (5-29%)HP:0001176

Flat philtrum

Occasional (5-29%)HP:0000319

Increased length of philtrum

Occasional (5-29%)HP:0000343

Large ears

Occasional (5-29%)HP:0000400

Nostrils anteverted

Occasional (5-29%)HP:0000463

Obesity

Occasional (5-29%)HP:0001513

Overbite

Occasional (5-29%)HP:0011094

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Seizures

Occasional (5-29%)HP:0001250

Thick, flared eyebrows

Occasional (5-29%)HP:0002553

Unibrow

Occasional (5-29%)HP:0000664

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Autosomal dominant hereditary disorder(parent)

Duplication of chromosome 11(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770794008
UMLS CUI: C4749508
Fully Specified Name: 11p15.4 microduplication syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.