Monosomy 15q11.2

disorder

SNOMED 771340007CUI C4749854

Overview

Monosomy 15q11.2 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 palate morphology

Frequent (30-79%)HP:0000174

Behavioral changes

Frequent (30-79%)HP:0000708

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Deformity of face

Frequent (30-79%)HP:0001999

Dyslexia

Frequent (30-79%)HP:0010522

Dysplastic ears

Frequent (30-79%)HP:0000377

Memory impairment

Frequent (30-79%)HP:0002354

Mental and motor retardation

Frequent (30-79%)HP:0001263

No development of motor milestones

Frequent (30-79%)HP:0001270

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Speech difficulties

Frequent (30-79%)HP:0000750

Thick cerebral cortex

Frequent (30-79%)HP:0006891

Ataxia

Occasional (5-29%)HP:0001251

Autism

Occasional (5-29%)HP:0000717

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Autoagression

Occasional (5-29%)HP:0100716

Cardiac anomaly

Occasional (5-29%)HP:0001627

Decreased size of cranium

Occasional (5-29%)HP:0000252

Imbalance

Occasional (5-29%)HP:0002172

Incoordination

Occasional (5-29%)HP:0002311

Increased width of the forehead

Occasional (5-29%)HP:0000337

Poor attention span

Occasional (5-29%)HP:0000736

Schizophrenia

Occasional (5-29%)HP:0100753

Seizures

Occasional (5-29%)HP:0001250

Aortic coarctation

Very rare (1-4%)HP:0001680

Atria septal defect

Very rare (1-4%)HP:0001631

Dilated fourth ventricle

Very rare (1-4%)HP:0002198

TAPVD

Very rare (1-4%)HP:0005160

Tetrology of fallot

Very rare (1-4%)HP:0001636

Related Conditions

Partial deletion of long arm of chromosome 15(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 771340007
UMLS CUI: C4749854
Fully Specified Name: 15q11.2 microdeletion 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.