2q32q33 microdeletion syndrome

disorder

SNOMED 719659003CUI C4304531

Overview

2q32q33 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

Decreased body height

Very frequent (80-99%)HP:0004322

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Cleft of palate

Frequent (30-79%)HP:0000175

Convex bridge of nose

Frequent (30-79%)HP:0000426

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Feeding difficulties

Frequent (30-79%)HP:0011968

Fine hair

Frequent (30-79%)HP:0002213

Growth deficiency

Frequent (30-79%)HP:0001510

High arched palate

Frequent (30-79%)HP:0000218

High forehead

Frequent (30-79%)HP:0000348

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Low-set ears

Frequent (30-79%)HP:0000369

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Tooth mass arch size discrepancy

Frequent (30-79%)HP:0000678

Arachnodactyly

Occasional (5-29%)HP:0001166

Autism

Occasional (5-29%)HP:0000717

Broad bone of big toe

Occasional (5-29%)HP:0010059

Broad thumbs

Occasional (5-29%)HP:0011304

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased testicular size

Occasional (5-29%)HP:0008734

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Foot, talipes equinovarus

Occasional (5-29%)HP:0001762

Happy aspect

Occasional (5-29%)HP:0100024

Hooked nose

Occasional (5-29%)HP:0000444

Hypotrichosis

Occasional (5-29%)HP:0008070

Incomprehensible speech

Occasional (5-29%)HP:0002546

Related Conditions

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

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 719659003
UMLS CUI: C4304531
Fully Specified Name: 2q32q33 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.