UPD(X)mat - maternal uniparental disomy of chromosome X

disorder

SNOMED 783735004CUI C5191056

Overview

UPD(X)mat - maternal uniparental disomy of chromosome X 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.

Abnormality of chromosome segregation

Very frequent (80-99%)HP:0002916

Absence of corpus callosum

Very frequent (80-99%)HP:0001274

Broad chest

Very frequent (80-99%)HP:0000914

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Flexion contractures

Very frequent (80-99%)HP:0001371

Heart failure

Very frequent (80-99%)HP:0001635

Hepatic failure

Very frequent (80-99%)HP:0001399

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Invaginated nipples

Very frequent (80-99%)HP:0003186

Low posterior hair line

Very frequent (80-99%)HP:0002162

Mental-retardation

Very frequent (80-99%)HP:0001249

Outward turned elbows

Very frequent (80-99%)HP:0002967

Predominantly lower limb lymphedema

Very frequent (80-99%)HP:0003550

Primary gonadal insufficiency

Very frequent (80-99%)HP:0008193

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Rocker bottom feet

Very frequent (80-99%)HP:0001838

Scoliosis

Very frequent (80-99%)HP:0002650

Seizures

Very frequent (80-99%)HP:0001250

Short neck

Very frequent (80-99%)HP:0000470

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Azoospermia

Frequent (30-79%)HP:0000027

Gonadal tissue inappropriate for external genitalia or chromosomal sex

Frequent (30-79%)HP:0003248

Related Conditions

Anomaly of chromosome X(parent)

Uniparental disomy of maternal origin(parent)

Quick Facts

SNOMED CT: 783735004
UMLS CUI: C5191056
Fully Specified Name: Maternal uniparental disomy of chromosome X (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.