Maternal uniparental disomy of chromosome 14

disorder

SNOMED 1003405008CUI C4015558

Overview

Maternal 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.

Birth weight less than 10th percentile

Very frequent (80-99%)HP:0001518

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Growth delay as children

Very frequent (80-99%)HP:0008897

Hypotonia, early

Very frequent (80-99%)HP:0008947

Muscular hypotonia

Very frequent (80-99%)HP:0001252

No development of motor milestones

Very frequent (80-99%)HP:0001270

Precocious puberty

Very frequent (80-99%)HP:0000826

Bulging forehead

Frequent (30-79%)HP:0011220

Decreased body height

Frequent (30-79%)HP:0004322

Delayed language development

Frequent (30-79%)HP:0000750

Feeding difficulties

Frequent (30-79%)HP:0011968

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Mental retardation, mild

Frequent (30-79%)HP:0001256

Nasogastric tube feeding

Frequent (30-79%)HP:0040288

Obesity

Frequent (30-79%)HP:0001513

Poor school performance

Frequent (30-79%)HP:0001249

Premature birth

Frequent (30-79%)HP:0001622

Small for gestational age infant

Frequent (30-79%)HP:0001511

Concave bridge of nose

Occasional (5-29%)HP:0005280

Cryptorchidism

Occasional (5-29%)HP:0000028

Curvature of digit

Occasional (5-29%)HP:0030084

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Decreased testicular size

Occasional (5-29%)HP:0008734

Elevated total cholesterol

Occasional (5-29%)HP:0003124

High arched palate

Occasional (5-29%)HP:0000218

Increased appetite

Occasional (5-29%)HP:0002591

Increased nasal width

Occasional (5-29%)HP:0000445

Increased triglycerides

Occasional (5-29%)HP:0002155

Related Conditions

Anomaly of chromosome pair 14(parent)

Uniparental disomy of maternal origin(parent)

Quick Facts

SNOMED CT: 1003405008
UMLS CUI: C4015558
Fully Specified Name: Maternal uniparental disomy 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.