16p13.11 microdeletion syndrome

disorder

SNOMED 719577000CUI C4304596

Overview

16p13.11 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Specific learning disability

Very frequent (80-99%)HP:0001328

Speech delay

Very frequent (80-99%)HP:0000750

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Nasal hypoplasia

Frequent (30-79%)HP:0003196

Nostrils anteverted

Frequent (30-79%)HP:0000463

Abnormality of neuronal migration

Occasional (5-29%)HP:0002269

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Atria septal defect

Occasional (5-29%)HP:0001631

Autoagression

Occasional (5-29%)HP:0100716

Cleft of palate

Occasional (5-29%)HP:0000175

Cleft of upper lip

Occasional (5-29%)HP:0000204

Concave bridge of nose

Occasional (5-29%)HP:0005280

Cryptorchidism

Occasional (5-29%)HP:0000028

Cupid-bow shaped upper lip

Occasional (5-29%)HP:0002263

Cyclopia

Occasional (5-29%)HP:0009914

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Electroencephalogram abnormal

Occasional (5-29%)HP:0002353

External auditory meatal atresia

Occasional (5-29%)HP:0000413

Feeding difficulties

Occasional (5-29%)HP:0011968

Flat philtrum

Occasional (5-29%)HP:0000319

Foot, talipes equinovarus

Occasional (5-29%)HP:0001762

Gastroesophageal reflux disease

Occasional (5-29%)HP:0002020

Large mouth

Occasional (5-29%)HP:0000154

Low-set ears

Occasional (5-29%)HP:0000369

Related Conditions

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

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 719577000
UMLS CUI: C4304596
Fully Specified Name: 16p13.11 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.