10q22.3q23.3 microdeletion syndrome

disorder

SNOMED 770401007CUI C4749270

Overview

10q22.3q23.3 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.

Increased size of skull

Very frequent (80-99%)HP:0000256

Language impairment

Very frequent (80-99%)HP:0002463

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Concave bridge of nose

Frequent (30-79%)HP:0005280

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low-set ears

Frequent (30-79%)HP:0000369

Arachnodactyly

Occasional (5-29%)HP:0001166

Autism

Occasional (5-29%)HP:0000717

Chiari malformation

Occasional (5-29%)HP:0002308

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Congenital absence of breast

Occasional (5-29%)HP:0100783

Curved middle phalanx of the 4th toe

Occasional (5-29%)HP:0100444

Decreased size of cranium

Occasional (5-29%)HP:0000252

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Endocardial cushion defect

Occasional (5-29%)HP:0006695

Epilepsy

Occasional (5-29%)HP:0001250

Frontal protuberance

Occasional (5-29%)HP:0002007

Intestinal polyposis

Occasional (5-29%)HP:0200008

Joint ligamentous laxity

Occasional (5-29%)HP:0001382

Mongoloid slant

Occasional (5-29%)HP:0000582

Nostrils anteverted

Occasional (5-29%)HP:0000463

Ocular hypotelorism

Occasional (5-29%)HP:0000601

Palpebronasal fold

Occasional (5-29%)HP:0000286

PDA

Occasional (5-29%)HP:0001643

Retromicrognathia

Occasional (5-29%)HP:0000308

Small cerebellum

Occasional (5-29%)HP:0001321

Talipes foot deformities

Occasional (5-29%)HP:0001883

Tricuspid valve prolapse

Occasional (5-29%)HP:0001704

Undergrowth

Occasional (5-29%)HP:0001508

Related Conditions

10q partial monosomy(parent)

Quick Facts

SNOMED CT: 770401007
UMLS CUI: C4749270
Fully Specified Name: 10q22.3q23.3 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.