2q23.1 microduplication syndrome

disorder

SNOMED 766816008CUI C4707847

Overview

2q23.1 microduplication 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.

Abnormality of the auricle

Very frequent (80-99%)HP:0000356

Autism spectrum disorder

Very frequent (80-99%)HP:0000729

Behavioural/Psychiatric abnormality

Very frequent (80-99%)HP:0000708

Cognitive delay

Very frequent (80-99%)HP:0001263

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Hypotonia, early

Very frequent (80-99%)HP:0008947

Large mouth

Very frequent (80-99%)HP:0000154

Problems speaking

Very frequent (80-99%)HP:0002465

Abnormal hands

Frequent (30-79%)HP:0001155

Abnormality of the feet

Frequent (30-79%)HP:0001760

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Bilateral ptosis

Frequent (30-79%)HP:0001488

Broad big toe

Frequent (30-79%)HP:0010055

Bulbous nose

Frequent (30-79%)HP:0000414

Bulbous tip of nose

Frequent (30-79%)HP:0005274

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Dental problems

Frequent (30-79%)HP:0000164

Hypotrophic midface

Frequent (30-79%)HP:0011800

Incoordination

Frequent (30-79%)HP:0002311

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Large nose

Frequent (30-79%)HP:0000448

Ocular hypotelorism

Frequent (30-79%)HP:0000601

Poor eye contact

Frequent (30-79%)HP:0000817

Squint

Frequent (30-79%)HP:0000486

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

Tooth mass arch size discrepancy

Frequent (30-79%)HP:0000678

Trouble sleeping

Frequent (30-79%)HP:0002360

Wide based walk

Frequent (30-79%)HP:0002136

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Flat light-brown mark on skin

Occasional (5-29%)HP:0000957

Related Conditions

2q partial trisomy syndrome(parent)

Quick Facts

SNOMED CT: 766816008
UMLS CUI: C4707847
Fully Specified Name: 2q23.1 microduplication 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.