Paternal uniparental disomy of chromosome 6

disorder

SNOMED 770670003CUI C4749378

Overview

Paternal uniparental disomy of chromosome 6 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 earlobe morphology

Very frequent (80-99%)HP:0000363

Abnormality of the face

Very frequent (80-99%)HP:0000271

Cryptorchidism

Very frequent (80-99%)HP:0000028

Dehydration

Very frequent (80-99%)HP:0001944

Enlarged liver

Very frequent (80-99%)HP:0002240

Enlarged vaginal lips

Very frequent (80-99%)HP:0000065

Gingival overgrowth

Very frequent (80-99%)HP:0000212

Growth delay as children

Very frequent (80-99%)HP:0008897

High arched palate

Very frequent (80-99%)HP:0000218

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased heart size

Very frequent (80-99%)HP:0001640

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Lingual hyperplasia

Very frequent (80-99%)HP:0000158

Myoclonic epilepsy, progressive

Very frequent (80-99%)HP:0002123

Nasal hypertrophy

Very frequent (80-99%)HP:0000448

Neonatal insulin-dependent diabetes mellitus

Very frequent (80-99%)HP:0000857

Oligohydramnios

Very frequent (80-99%)HP:0001562

Precocious puberty

Very frequent (80-99%)HP:0000826

Prominent posterior skull

Very frequent (80-99%)HP:0000269

Respiratory distress, neonatal

Very frequent (80-99%)HP:0002643

Retrognathia

Very frequent (80-99%)HP:0000278

Shallow eye sockets

Very frequent (80-99%)HP:0000586

Small anterior fontanelle

Very frequent (80-99%)HP:0000237

Small fingernail

Very frequent (80-99%)HP:0001804

Umbilical hernia

Very frequent (80-99%)HP:0001537

VSD

Very frequent (80-99%)HP:0001629

Abnormality of the placenta

Occasional (5-29%)HP:0100767

Congenital anterior abdominal wall defect

Occasional (5-29%)HP:0010866

Ligamentous laxity

Occasional (5-29%)HP:0001382

PDA

Occasional (5-29%)HP:0001643

Related Conditions

Anomaly of chromosome pair 6(parent)

Paternal uniparental disomy(parent)

Quick Facts

SNOMED CT: 770670003
UMLS CUI: C4749378
Fully Specified Name: Paternal uniparental disomy of chromosome 6 (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.