Proximal 16p11.2 microdeletion syndrome

disorder

SNOMED 718227006CUI C4273657

Overview

Proximal 16p11.2 microdeletion 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.

Autism spectrum disorder

Very frequent (80-99%)HP:0000729

Behavioural disorders

Very frequent (80-99%)HP:0000708

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Big calvaria

Frequent (30-79%)HP:0000256

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Low intelligence

Frequent (30-79%)HP:0001249

Mental retardation, mild

Frequent (30-79%)HP:0001256

Moderate receptive language delay

Frequent (30-79%)HP:0011351

No development of motor milestones

Frequent (30-79%)HP:0001270

Severe expressive language delay

Frequent (30-79%)HP:0006863

Specific learning disability

Frequent (30-79%)HP:0001328

Speech articulation difficulties

Frequent (30-79%)HP:0009088

Speech difficulties

Frequent (30-79%)HP:0000750

Abnormal aortic valve morphology

Occasional (5-29%)HP:0001646

Apraxia of speech

Occasional (5-29%)HP:0011098

Arnold Chiari type I malformation

Occasional (5-29%)HP:0007099

Atria septal defect

Occasional (5-29%)HP:0001631

Autism

Occasional (5-29%)HP:0000717

Cardiac anomaly

Occasional (5-29%)HP:0001627

Choreoathetoid movements

Occasional (5-29%)HP:0001266

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Distortion of face

Occasional (5-29%)HP:0001999

Dystonic disease

Occasional (5-29%)HP:0001332

Epilepsy

Occasional (5-29%)HP:0001250

Feeding difficulties

Occasional (5-29%)HP:0011968

Flat midface

Occasional (5-29%)HP:0011800

Fluid-filled sac located in membrane surrounding brain or spinal cord

Occasional (5-29%)HP:0100702

Related Conditions

Developmental delay(parent)

Congenital malformation(parent)

Deletion of part of short arm of chromosome 16(parent)

Quick Facts

SNOMED CT: 718227006
UMLS CUI: C4273657
Fully Specified Name: Proximal 16p11.2 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.