Xp22.13p22.2 duplication syndrome

disorder

SNOMED 782877002CUI C5190686

Overview

Xp22.13p22.2 duplication 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.

Broad, upturned nose

Very frequent (80-99%)HP:0000455

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Diaphragmatic hernia

Very frequent (80-99%)HP:0000776

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Enlarged mandible

Very frequent (80-99%)HP:0000303

Flared nasal alae

Very frequent (80-99%)HP:0000454

Funny looking face

Very frequent (80-99%)HP:0001999

High arched palate

Very frequent (80-99%)HP:0000218

High pitched voice

Very frequent (80-99%)HP:0001620

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large testis

Very frequent (80-99%)HP:0000053

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Muscular hypotonia

Very frequent (80-99%)HP:0001252

partial or complete syndactyly 2nd-3rd toes

Very frequent (80-99%)HP:0004691

Pectus excavatum

Very frequent (80-99%)HP:0000767

Psychomotor retardation, moderate

Very frequent (80-99%)HP:0011343

Short neck

Very frequent (80-99%)HP:0000470

Slowed slurred speech

Very frequent (80-99%)HP:0007164

Tapering fingers

Very frequent (80-99%)HP:0001182

Thin, sparse hair

Very frequent (80-99%)HP:0008070

Truncal obesity

Very frequent (80-99%)HP:0001956

Umbilical hernia

Very frequent (80-99%)HP:0001537

Anxiety disease

Occasional (5-29%)HP:0000739

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Deafness

Occasional (5-29%)HP:0000365

Epilepsy

Occasional (5-29%)HP:0001250

High frontal hairline

Occasional (5-29%)HP:0009890

Related Conditions

Anomaly of chromosome X(parent)

Duplication of chromosome(parent)

Developmental delay(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 782877002
UMLS CUI: C5190686
Fully Specified Name: Xp22.13p22.2 duplication 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.