20p partial trisomy syndrome

disorder

SNOMED 111311004CUI C2930888

Overview

20p partial trisomy 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.

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of chromosome segregation

Very frequent (80-99%)HP:0002916

Autonomic dysregulation

Very frequent (80-99%)HP:0012332

Cognitive deficits

Very frequent (80-99%)HP:0100543

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Gait disturbance

Very frequent (80-99%)HP:0001288

Hernia

Very frequent (80-99%)HP:0100790

Hypertrophy of cheeks

Very frequent (80-99%)HP:0000293

Incoordination

Very frequent (80-99%)HP:0002311

Joint instability

Very frequent (80-99%)HP:0001382

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Protruding ear

Very frequent (80-99%)HP:0000411

Round, full face

Very frequent (80-99%)HP:0000311

Short neck

Very frequent (80-99%)HP:0000470

Thick eyebrow

Very frequent (80-99%)HP:0000574

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Abnormality of the hips

Frequent (30-79%)HP:0003272

Asymmetry of the posterior cranium

Frequent (30-79%)HP:0001357

Brachydactyly

Frequent (30-79%)HP:0001156

Dental anomalies

Frequent (30-79%)HP:0000164

Foot deformity

Frequent (30-79%)HP:0001760

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

Increased distance between eyes

Frequent (30-79%)HP:0000316

Inguinal hernia

Frequent (30-79%)HP:0000023

Low anterior hairline

Frequent (30-79%)HP:0000294

Low posterior hair line

Frequent (30-79%)HP:0002162

Macrotia

Frequent (30-79%)HP:0000400

Mongoloid slant

Frequent (30-79%)HP:0000582

Related Conditions

Duplication of chromosome 20(parent)

Quick Facts

SNOMED CT: 111311004
UMLS CUI: C2930888
Fully Specified Name: 20p partial trisomy 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.