Paternal 20q13.2q13.3 microdeletion syndrome

disorder

SNOMED 724070005CUI C4510306

Overview

Paternal 20q13.2q13.3 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.

Atrophy of fat

Very frequent (80-99%)HP:0100578

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Enophthalmos

Very frequent (80-99%)HP:0000490

Feeding difficulties

Very frequent (80-99%)HP:0011968

High forehead

Very frequent (80-99%)HP:0000348

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Hypotrichosis

Very frequent (80-99%)HP:0008070

Hypotrophic eyebrow

Very frequent (80-99%)HP:0100840

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Large pinnae

Very frequent (80-99%)HP:0000400

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Poor weight gain

Very frequent (80-99%)HP:0001508

Potato nose

Very frequent (80-99%)HP:0000414

Psychomotor retardation, moderate

Very frequent (80-99%)HP:0011343

Skin dimples

Very frequent (80-99%)HP:0010781

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Thin skin

Very frequent (80-99%)HP:0000963

Laboured breathing

Frequent (30-79%)HP:0002098

Oligohydramnios

Frequent (30-79%)HP:0001562

Related Conditions

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

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 724070005
UMLS CUI: C4510306
Fully Specified Name: Paternal 20q13.2q13.3 microdeletion syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.