16p11.2p12.2 microdeletion syndrome

disorder

SNOMED 719576009CUI C4304597

Overview

16p11.2p12.2 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.

Chronic middle ear infection

Very frequent (80-99%)HP:0000389

Cognitive delay

Very frequent (80-99%)HP:0001263

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Feeding difficulties

Very frequent (80-99%)HP:0011968

Gastro-esophageal reflux

Very frequent (80-99%)HP:0002020

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Blepharophimosis

Frequent (30-79%)HP:0000581

Central hypotonia

Frequent (30-79%)HP:0001252

Decreased body height

Frequent (30-79%)HP:0004322

Delayed language development

Frequent (30-79%)HP:0000750

Dysplastic ears

Frequent (30-79%)HP:0000377

Enophthalmos

Frequent (30-79%)HP:0000490

Flat facial shape

Frequent (30-79%)HP:0012368

Frontal protuberance

Frequent (30-79%)HP:0002007

hyperkinetic disorder

Frequent (30-79%)HP:0000752

Impaired pain sensation

Frequent (30-79%)HP:0007328

Low-set ears

Frequent (30-79%)HP:0000369

Multiple birthmarks

Frequent (30-79%)HP:0007565

Palpebronasal fold

Frequent (30-79%)HP:0000286

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Retromicrognathia

Frequent (30-79%)HP:0000308

Slack jawed appearance

Frequent (30-79%)HP:0000194

Syndactyly of feet

Frequent (30-79%)HP:0001770

Agenesis of nasal bridge

Occasional (5-29%)HP:0005285

Attachment of thumb close to wrist

Occasional (5-29%)HP:0009623

Cardiac arrhythmias

Occasional (5-29%)HP:0011675

Cleft lip, cleft palate

Occasional (5-29%)HP:0000202

Deafness

Occasional (5-29%)HP:0000365

Related Conditions

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

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

Quick Facts

SNOMED CT: 719576009
UMLS CUI: C4304597
Fully Specified Name: 16p11.2p12.2 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.