2q31.1 microdeletion syndrome

disorder

SNOMED 716387004CUI C4274647

Overview

2q31.1 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Low intelligence

Very frequent (80-99%)HP:0001249

Abnormal hair morphology

Frequent (30-79%)HP:0001595

Abnormal metacarpal morphology

Frequent (30-79%)HP:0005916

Abnormal spinal segmentation

Frequent (30-79%)HP:0003422

Brachydactyly

Frequent (30-79%)HP:0001156

Broad bone of big toe

Frequent (30-79%)HP:0010059

Bulbous nose

Frequent (30-79%)HP:0000414

Decreased body height

Frequent (30-79%)HP:0004322

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Epilepsy

Frequent (30-79%)HP:0001250

Hypoplastic toenails

Frequent (30-79%)HP:0001800

Increased length of philtrum

Frequent (30-79%)HP:0000343

Language impairment

Frequent (30-79%)HP:0002463

Low-set ears

Frequent (30-79%)HP:0000369

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Prominent frontal suture

Frequent (30-79%)HP:0005487

Prominent philtrum

Frequent (30-79%)HP:0002002

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Retarded ossification

Frequent (30-79%)HP:0002750

Short neck

Frequent (30-79%)HP:0000470

Short palpebral fissure

Frequent (30-79%)HP:0012745

Space between great toe and second toe

Frequent (30-79%)HP:0001852

Syndactyly of feet

Frequent (30-79%)HP:0001770

Tapering fingers

Frequent (30-79%)HP:0001182

Abnormal fibula morphology

Occasional (5-29%)HP:0002991

Related Conditions

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

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 716387004
UMLS CUI: C4274647
Fully Specified Name: 2q31.1 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.