2q23.1 microdeletion syndrome

disorder

SNOMED 719657001CUI C4304532

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Delayed language development

Very frequent (80-99%)HP:0000750

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Repetitive behaviour Stereotypic behaviour

Very frequent (80-99%)HP:0000733

Seizures

Very frequent (80-99%)HP:0001250

Ataxia

Frequent (30-79%)HP:0001251

Autoagression

Frequent (30-79%)HP:0100716

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Coarse face

Frequent (30-79%)HP:0000280

Constipation

Frequent (30-79%)HP:0002019

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Eclabium of lower lip

Frequent (30-79%)HP:0000232

Generalized hirsutism

Frequent (30-79%)HP:0002230

Hyperactive behaviour

Frequent (30-79%)HP:0000752

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Increased appetite

Frequent (30-79%)HP:0002591

Increased width of the forehead

Frequent (30-79%)HP:0000337

Inverted V-shaped upper lip

Frequent (30-79%)HP:0010804

Muscular hypotonia

Frequent (30-79%)HP:0001252

Paroxysmal laughter

Frequent (30-79%)HP:0000749

Poor growth

Frequent (30-79%)HP:0001510

Short hands

Frequent (30-79%)HP:0004279

Slack jawed appearance

Frequent (30-79%)HP:0000194

Space between great toe and second toe

Frequent (30-79%)HP:0001852

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

Trouble sleeping

Frequent (30-79%)HP:0002360

Unibrow

Frequent (30-79%)HP:0000664

Wide cranium shape

Frequent (30-79%)HP:0000248

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Cryptorchidism

Occasional (5-29%)HP:0000028

Related Conditions

Deletion of part of long arm of chromosome 2(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 719657001
UMLS CUI: C4304532
Fully Specified Name: 2q23.1 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.