6q25 microdeletion syndrome

disorder

SNOMED 719663005CUI C4304527

Overview

6q25 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.

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormal shape of nervous system

Frequent (30-79%)HP:0012639

Abnormality of vision

Frequent (30-79%)HP:0000504

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Decreased body height

Frequent (30-79%)HP:0004322

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dysplastic ears

Frequent (30-79%)HP:0000377

Flattening of cranial vault

Frequent (30-79%)HP:0001357

High arched palate

Frequent (30-79%)HP:0000218

Increased distance between eyes

Frequent (30-79%)HP:0000316

Palpebronasal fold

Frequent (30-79%)HP:0000286

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Undergrowth

Frequent (30-79%)HP:0001508

Zygomatic flattening

Frequent (30-79%)HP:0000272

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Central hypotonia

Occasional (5-29%)HP:0001252

Cleft of palate

Occasional (5-29%)HP:0000175

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Epilepsy

Occasional (5-29%)HP:0001250

Hypogenitalism

Occasional (5-29%)HP:0003241

Hypotonia, in neonatal onset

Occasional (5-29%)HP:0001319

Increased length of philtrum

Occasional (5-29%)HP:0000343

Mongoloid slant

Occasional (5-29%)HP:0000582

Permanent curving of the pinkie finger

Occasional (5-29%)HP:0004209

Related Conditions

Deletion of part of long arm of chromosome 6(parent)

Quick Facts

SNOMED CT: 719663005
UMLS CUI: C4304527
Fully Specified Name: 6q25 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.