Distal 16p11.2 microdeletion syndrome

disorder

SNOMED 733521003CUI C4518824

Overview

Distal 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.

Arachnodactyly

Very frequent (80-99%)HP:0001166

Breakdown of light-sensitive cells in back of eye

Very frequent (80-99%)HP:0000556

Childhood attention deficit/hyperactivity disorder

Very frequent (80-99%)HP:0007018

Cognitive delay

Very frequent (80-99%)HP:0001263

Hypotonia, in neonatal onset

Very frequent (80-99%)HP:0001319

Low anterior hairline

Very frequent (80-99%)HP:0000294

Narrow mouth

Very frequent (80-99%)HP:0000160

Oval facies

Very frequent (80-99%)HP:0000300

Prominent nasal root

Very frequent (80-99%)HP:0000426

Retinitis pigmentosa

Very frequent (80-99%)HP:0000510

Speech difficulties

Very frequent (80-99%)HP:0000750

Aganglionic megacolon

Frequent (30-79%)HP:0002251

ASD

Frequent (30-79%)HP:0000729

Chronic constipation

Frequent (30-79%)HP:0012450

Dull intelligence

Frequent (30-79%)HP:0001249

Epilepsy

Frequent (30-79%)HP:0001250

Hyperuricaemia

Frequent (30-79%)HP:0002149

Moderate receptive language delay

Frequent (30-79%)HP:0011351

Obesity

Frequent (30-79%)HP:0001513

Progressive renal failure

Frequent (30-79%)HP:0012622

Proteinuria

Frequent (30-79%)HP:0000093

Renal anomalies

Frequent (30-79%)HP:0000077

Renal aplasia

Frequent (30-79%)HP:0000104

VUR

Frequent (30-79%)HP:0000076

Hunched back

Occasional (5-29%)HP:0002808

Migraine headache

Occasional (5-29%)HP:0002076

Related Conditions

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

Developmental delay(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 733521003
UMLS CUI: C4518824
Fully Specified Name: Distal 16p11.2 microdeletion syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.