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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.

Mental and motor retardation
Very frequent (80-99%)HP:0001263
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Convex bridge of nose
Frequent (30-79%)HP:0000426
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Eclabium of lower lip
Frequent (30-79%)HP:0000232
Large pinnae
Frequent (30-79%)HP:0000400
Speech and language 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
Bilateral fifth digit clinodactyly
Occasional (5-29%)HP:0004209
Bipolar depression
Occasional (5-29%)HP:0007302
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Decreased transverse dimension of face
Occasional (5-29%)HP:0000275
Depressive episode
Occasional (5-29%)HP:0000716
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Fused kidneys
Occasional (5-29%)HP:0000085
Gait disturbance
Occasional (5-29%)HP:0001288
Gastro-esophageal reflux
Occasional (5-29%)HP:0002020
High arched palate
Occasional (5-29%)HP:0000218
Hypernasal voice
Occasional (5-29%)HP:0001611
Hypospadias
Occasional (5-29%)HP:0000047
Lens opacities
Occasional (5-29%)HP:0000518
Ligamentous laxity
Occasional (5-29%)HP:0001382
Nanophthalmos
Occasional (5-29%)HP:0000568
Narrowing of blood vessel below aortic heart valve
Occasional (5-29%)HP:0001682
Nasal hypoplasia
Occasional (5-29%)HP:0003196
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.