Maternal uniparental disomy of chromosome 1

disorder

SNOMED 770562000CUI C4749302

Overview

Maternal uniparental disomy of chromosome 1 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 blistering of the skin

Frequent (30-79%)HP:0008066

Abnormal limb bone morphology

Frequent (30-79%)HP:0002813

Ataxia

Frequent (30-79%)HP:0001251

Autism

Frequent (30-79%)HP:0000717

Congenital hypotonia

Frequent (30-79%)HP:0001319

Decreased body height

Frequent (30-79%)HP:0004322

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Enlarged liver

Frequent (30-79%)HP:0002240

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Flat philtrum

Frequent (30-79%)HP:0000319

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Growth failure

Frequent (30-79%)HP:0001510

Hypoacusis

Frequent (30-79%)HP:0000365

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Late closure of soft spot on the skull

Frequent (30-79%)HP:0001476

Lens opacities

Frequent (30-79%)HP:0000518

Pancytopenia

Frequent (30-79%)HP:0001876

Panypogammaglobulinemia

Frequent (30-79%)HP:0003139

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Predisposition to infections

Frequent (30-79%)HP:0002719

Progressive psychomotor deterioration

Frequent (30-79%)HP:0007272

Single flexion crease

Frequent (30-79%)HP:0000954

Spasticity, progressive

Frequent (30-79%)HP:0002191

Stippling of the epiphyses

Frequent (30-79%)HP:0010655

Talipes

Frequent (30-79%)HP:0001883

Type I diabetes mellitus

Frequent (30-79%)HP:0100651

Uplifted earlobe

Frequent (30-79%)HP:0009909

Related Conditions

Anomaly of chromosome pair 1(parent)

Uniparental disomy of maternal origin(parent)

Quick Facts

SNOMED CT: 770562000
UMLS CUI: C4749302
Fully Specified Name: Maternal uniparental disomy of chromosome 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.