20p13 microdeletion syndrome

disorder

SNOMED 773346008CUI C4750789

Overview

20p13 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.

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Bulging forehead

Frequent (30-79%)HP:0011220

Convex bridge of nose

Frequent (30-79%)HP:0000426

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delay in head control

Frequent (30-79%)HP:0002421

Dysplastic ears

Frequent (30-79%)HP:0000377

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Flat philtrum

Frequent (30-79%)HP:0000319

Low-set ears

Frequent (30-79%)HP:0000369

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Seizures

Frequent (30-79%)HP:0001250

Small nail

Frequent (30-79%)HP:0001792

Speech and language difficulties

Frequent (30-79%)HP:0000750

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

Weight less than 3rd percentile

Frequent (30-79%)HP:0004325

Wider-than-typical soft spot of skull

Frequent (30-79%)HP:0000260

Brachydactyly

Occasional (5-29%)HP:0001156

Curvature of digit

Occasional (5-29%)HP:0030084

Decreased corneal diameter

Occasional (5-29%)HP:0000482

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased visual acuity

Occasional (5-29%)HP:0007663

Deep set eye

Occasional (5-29%)HP:0000490

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Hypoplastic helices

Occasional (5-29%)HP:0008589

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased intercanthal distance

Occasional (5-29%)HP:0000506

Increased size of skull

Occasional (5-29%)HP:0000256

Narrow eyelid opening

Occasional (5-29%)HP:0045025

Noninflammatory retina disease

Occasional (5-29%)HP:0000488

Related Conditions

Deletion of part of short arm of chromosome 20(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 773346008
UMLS CUI: C4750789
Fully Specified Name: 20p13 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.