Maternal uniparental disomy of chromosome 4

disorder

SNOMED 766238001CUI C4707719

Overview

Maternal uniparental disomy of chromosome 4 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.

Abetalipoproteinemia

Frequent (30-79%)HP:0008181

Abnormality of red blood cells

Frequent (30-79%)HP:0001877

Abnormality of the nervous system

Frequent (30-79%)HP:0000707

Acanthocytosis

Frequent (30-79%)HP:0001927

Ataxia

Frequent (30-79%)HP:0001251

Calf muscle pseudohypertrophy

Frequent (30-79%)HP:0003707

Chaddock reflex

Frequent (30-79%)HP:0010875

Decreased body height

Frequent (30-79%)HP:0004322

Decreased circulating cholesterol level

Frequent (30-79%)HP:0003146

Decreased LDL cholesterol concentration

Frequent (30-79%)HP:0003563

Depression

Frequent (30-79%)HP:0000716

Diarrhea

Frequent (30-79%)HP:0002014

Difficulties with night vision

Frequent (30-79%)HP:0000662

Dysmetria

Frequent (30-79%)HP:0001310

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Fat malabsorption

Frequent (30-79%)HP:0002630

Growth delay as children

Frequent (30-79%)HP:0008897

Hyporeflexia of lower limbs

Frequent (30-79%)HP:0002600

Impaired proprioception

Frequent (30-79%)HP:0010831

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

limb girdle muscular dystrophy

Frequent (30-79%)HP:0006785

Low body weight

Frequent (30-79%)HP:0004325

Low fibrinogen level

Frequent (30-79%)HP:0011900

Low levels of vitamin A

Frequent (30-79%)HP:0004905

Low levels of vitamin K

Frequent (30-79%)HP:0011892

Malnutrition

Frequent (30-79%)HP:0004395

Mental deficiency

Frequent (30-79%)HP:0001249

Neck flexion weakness

Frequent (30-79%)HP:0003722

Partial loss of field of vision

Frequent (30-79%)HP:0001123

Pigmentary retinopathy

Frequent (30-79%)HP:0000580

Related Conditions

Uniparental disomy of maternal origin(parent)

Anomaly of chromosome pair 4(parent)

Quick Facts

SNOMED CT: 766238001
UMLS CUI: C4707719
Fully Specified Name: Maternal uniparental disomy of chromosome 4 (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.