Paternal uniparental disomy of chromosome 14

disorder

SNOMED 1003872003CUI C1842466

Overview

Paternal uniparental disomy of chromosome 14 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 projection of mandible

Frequent (30-79%)HP:0000347

Atria septal defect

Occasional (5-29%)HP:0001631

Cognitive delay

Occasional (5-29%)HP:0001263

Enlarged liver

Occasional (5-29%)HP:0002240

Epilepsy

Occasional (5-29%)HP:0001250

Frontal protuberance

Occasional (5-29%)HP:0002007

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Inguinal hernia

Occasional (5-29%)HP:0000023

Kyphoscoliosis

Occasional (5-29%)HP:0002751

Large spleen

Occasional (5-29%)HP:0001744

Laryngomalacia

Occasional (5-29%)HP:0001601

Long collarbone

Occasional (5-29%)HP:0000890

Long fingers

Occasional (5-29%)HP:0100807

Muscular hypotonia

Occasional (5-29%)HP:0001252

Nostrils anteverted

Occasional (5-29%)HP:0000463

Omphalocoele

Occasional (5-29%)HP:0001539

PDA

Occasional (5-29%)HP:0001643

Poorly developed lungs

Occasional (5-29%)HP:0002089

Pulmonary artery hypertension

Occasional (5-29%)HP:0002092

Pulmonary stenosis

Occasional (5-29%)HP:0001642

Retrognathia of upper jaw

Occasional (5-29%)HP:0000327

Short palpebral fissure

Occasional (5-29%)HP:0012745

Slender ribs

Occasional (5-29%)HP:0000883

Valgus hip

Occasional (5-29%)HP:0002673

VSD

Occasional (5-29%)HP:0001629

Bell-shaped chest

HP:0001591

Blepharophimosis

HP:0000581

Concave bridge of nose

HP:0005280

Flexion contractures

HP:0001371

Gap between large left and right abdominal muscles

HP:0001540

Related Conditions

Anomaly of chromosome pair 14(parent)

Paternal uniparental disomy(parent)

Quick Facts

SNOMED CT: 1003872003
UMLS CUI: C1842466
Fully Specified Name: Uniparental disomy of paternal origin of chromosome 14 (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.