Mosaic trisomy chromosome 20

disorder

SNOMED 764624003CUI C5979884

Overview

Mosaic trisomy chromosome 20 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.

Hypotonia, early

Very frequent (80-99%)HP:0008947

Chronic constipation

Frequent (30-79%)HP:0012450

Depigmentation/hyperpigmentation of skin

Frequent (30-79%)HP:0007483

Hypopigmented streaks

Frequent (30-79%)HP:0007535

Psychomotor retardation, mild

Frequent (30-79%)HP:0011342

Retrognathia

Frequent (30-79%)HP:0000278

Sloping shoulders

Frequent (30-79%)HP:0200021

Spinal cord pathology

Frequent (30-79%)HP:0002143

Abnormal mitral valve morphology

Occasional (5-29%)HP:0001633

Abnormal spinal segmentation

Occasional (5-29%)HP:0003422

Cleft lip

Occasional (5-29%)HP:0410030

Cleft of palate

Occasional (5-29%)HP:0000175

Congenitally fused vertebrae

Occasional (5-29%)HP:0002948

Cryptorchidism

Occasional (5-29%)HP:0000028

Curvature of digit

Occasional (5-29%)HP:0030084

Deafness

Occasional (5-29%)HP:0000365

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Fused neck

Occasional (5-29%)HP:0002949

Horseshoe kidney

Occasional (5-29%)HP:0000085

Hunched back

Occasional (5-29%)HP:0002808

Hypoplastic mandible condyle

Occasional (5-29%)HP:0000347

Increased cervical length

Occasional (5-29%)HP:0000472

Intrauterine growth retardation, IUGR

Occasional (5-29%)HP:0001511

Limited pronation/supination of forearm

Occasional (5-29%)HP:0006394

Low chest circumference

Occasional (5-29%)HP:0000774

Malformation of craniofacial shape

Occasional (5-29%)HP:0004484

Mongoloid slant

Occasional (5-29%)HP:0000582

No development of motor milestones

Occasional (5-29%)HP:0001270

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Renal anomalies

Occasional (5-29%)HP:0000077

Related Conditions

Anomaly of chromosome pair 20(parent)

Trisomy and partial trisomy of autosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 764624003
UMLS CUI: C5979884
Fully Specified Name: Mosaic trisomy 20 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.