19p13.12 microdeletion syndrome

disorder

SNOMED 719597005CUI C4304579

Overview

19p13.12 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.

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Speech difficulties

Very frequent (80-99%)HP:0000750

Atria septal defect

Frequent (30-79%)HP:0001631

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Cardiac arrhythmias

Frequent (30-79%)HP:0011675

Central hypotonia

Frequent (30-79%)HP:0001252

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dysplastic ears

Frequent (30-79%)HP:0000377

Epilepsy

Frequent (30-79%)HP:0001250

hyperkinetic disorder

Frequent (30-79%)HP:0000752

Increased width of the forehead

Frequent (30-79%)HP:0000337

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Low-set ears

Frequent (30-79%)HP:0000369

Missing between one and six teeth

Frequent (30-79%)HP:0000668

Nostrils anteverted

Frequent (30-79%)HP:0000463

Palpebronasal fold

Frequent (30-79%)HP:0000286

Pinched nasal bridge

Frequent (30-79%)HP:0000446

Sensorineural deafness

Frequent (30-79%)HP:0000407

Short and broad skull

Frequent (30-79%)HP:0000248

Short neck

Frequent (30-79%)HP:0000470

Short palm

Frequent (30-79%)HP:0004279

Unibrow

Frequent (30-79%)HP:0000664

Aortic valve regurgitation

Occasional (5-29%)HP:0001659

Arthrogryposis multiplex

Occasional (5-29%)HP:0002804

Autoagression

Occasional (5-29%)HP:0100716

Cleft of palate

Occasional (5-29%)HP:0000175

Craniosyostosis

Occasional (5-29%)HP:0001363

Related Conditions

Deletion of short arm of chromosome 19(parent)

Quick Facts

SNOMED CT: 719597005
UMLS CUI: C4304579
Fully Specified Name: 19p13.12 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.