3q29 microdeletion syndrome

disorder

SNOMED 716456000CUI C2674949

Overview

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

Signs & Symptoms

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

Cognitive delay

Very frequent (80-99%)HP:0001263

Mental deficiency

Very frequent (80-99%)HP:0001249

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Large pinnae

Frequent (30-79%)HP:0000400

Prominent nasal root

Frequent (30-79%)HP:0000426

Protruding lower lip

Frequent (30-79%)HP:0000232

Speech difficulties

Frequent (30-79%)HP:0000750

Abnormal skin colour

Occasional (5-29%)HP:0001000

Autism

Occasional (5-29%)HP:0000717

Big calvaria

Occasional (5-29%)HP:0000256

Bipolar depression

Occasional (5-29%)HP:0007302

Cataract

Occasional (5-29%)HP:0000518

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Cleft lip, cleft palate

Occasional (5-29%)HP:0000202

Decreased size of eyeball

Occasional (5-29%)HP:0000568

Decreased transverse dimension of face

Occasional (5-29%)HP:0000275

Dental anomalies

Occasional (5-29%)HP:0000164

Depressive episode

Occasional (5-29%)HP:0000716

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Gait disturbance

Occasional (5-29%)HP:0001288

Gastroesophageal reflux disease

Occasional (5-29%)HP:0002020

High arched palate

Occasional (5-29%)HP:0000218

Horseshoe kidney

Occasional (5-29%)HP:0000085

Hypospadias

Occasional (5-29%)HP:0000047

Ligamentous laxity

Occasional (5-29%)HP:0001382

Narrowing of blood vessel below aortic heart valve

Occasional (5-29%)HP:0001682

Nasal hypoplasia

Occasional (5-29%)HP:0003196

Nasal speech

Occasional (5-29%)HP:0001611

PDA

Occasional (5-29%)HP:0001643

Related Conditions

Autosomal dominant hereditary disorder(parent)

Deletion of part of long arm of chromosome 3(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 716456000
UMLS CUI: C2674949
Fully Specified Name: 3q29 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.