16q24.3 microdeletion syndrome

disorder

SNOMED 719580004CUI C4304594

Overview

16q24.3 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.

Autism

Very frequent (80-99%)HP:0000717

High forehead

Very frequent (80-99%)HP:0000348

Prominent ear

Very frequent (80-99%)HP:0000411

Colpocephaly

Frequent (30-79%)HP:0030048

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Double ring sign

Frequent (30-79%)HP:0000609

Flat philtrum

Frequent (30-79%)HP:0000319

Frontal protuberance

Frequent (30-79%)HP:0002007

High arched palate

Frequent (30-79%)HP:0000218

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased length of philtrum

Frequent (30-79%)HP:0000343

Large mouth

Frequent (30-79%)HP:0000154

Moderate mental retardation

Frequent (30-79%)HP:0002342

Periventricular grey matter heterotopia

Frequent (30-79%)HP:0007165

Seizures

Frequent (30-79%)HP:0001250

Small pointed chin

Frequent (30-79%)HP:0000307

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal distribution of hair

Occasional (5-29%)HP:0010720

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Attachment of thumb close to wrist

Occasional (5-29%)HP:0009623

Chronic ear infection

Occasional (5-29%)HP:0000389

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Cryptorchidism

Occasional (5-29%)HP:0000028

Deafness

Occasional (5-29%)HP:0000365

Decreased width of the skull

Occasional (5-29%)HP:0004422

Deglutition disorder

Occasional (5-29%)HP:0002015

Feeding difficulties

Occasional (5-29%)HP:0011968

Hunched back

Occasional (5-29%)HP:0002808

Increased MCV

Occasional (5-29%)HP:0005518

Related Conditions

Partial deletion of long arm of chromosome 16(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 719580004
UMLS CUI: C4304594
Fully Specified Name: 16q24.3 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.