2q24 microdeletion syndrome

disorder

SNOMED 719658006CUI C2931816

Overview

2q24 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.

Abnormality iris morphology

Very frequent (80-99%)HP:0000525

Behavioural disorders

Very frequent (80-99%)HP:0000708

Bullet-shaped outermost bone of big toe

Very frequent (80-99%)HP:0010078

Cleft of palate

Very frequent (80-99%)HP:0000175

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Growth deficiency

Very frequent (80-99%)HP:0001510

Hypotonia, in neonatal onset

Very frequent (80-99%)HP:0001319

Long fingers

Very frequent (80-99%)HP:0100807

Low birth weight

Very frequent (80-99%)HP:0001518

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental deficiency

Very frequent (80-99%)HP:0001249

Poor weight gain

Very frequent (80-99%)HP:0001508

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Seizures

Very frequent (80-99%)HP:0001250

Short neck

Very frequent (80-99%)HP:0000470

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Thumb clasp

Very frequent (80-99%)HP:0001188

Abnormality of lingual frenum

Frequent (30-79%)HP:0000190

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Increased distance between eyes

Frequent (30-79%)HP:0000316

Lens opacities

Frequent (30-79%)HP:0000518

Nanophthalmos

Frequent (30-79%)HP:0000568

Notched pupil

Frequent (30-79%)HP:0000589

Short and narrow face

Frequent (30-79%)HP:0000274

Central apnoea

Occasional (5-29%)HP:0002871

Related Conditions

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

Congenital malformation(parent)

Quick Facts

SNOMED CT: 719658006
UMLS CUI: C2931816
Fully Specified Name: 2q24 microdeletion syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.