Maternal uniparental disomy of chromosome 20

disorder

SNOMED 715735007CUI C4275029

Overview

Maternal uniparental disomy of chromosome 20 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.

Postnatal failure to thrive

Always present (100%)HP:0001508

Short stature, severe

Always present (100%)HP:0003510

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Growth delay as children

Very frequent (80-99%)HP:0008897

Central hypotonia

Frequent (30-79%)HP:0001252

Curvature of digit

Frequent (30-79%)HP:0030084

Decreased body height

Frequent (30-79%)HP:0004322

Decreased body weight

Frequent (30-79%)HP:0004325

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Inverted triangular face

Frequent (30-79%)HP:0000325

Low birth weight

Frequent (30-79%)HP:0001518

Mental and motor retardation

Frequent (30-79%)HP:0001263

Oligohydramnios

Frequent (30-79%)HP:0001562

Protruding forehead

Frequent (30-79%)HP:0011220

Reduced circulating growth hormone concentration

Frequent (30-79%)HP:0034323

Small for gestational age infant

Frequent (30-79%)HP:0001511

Cafe-au-lait spots

Occasional (5-29%)HP:0000957

Horseshoe kidney

Occasional (5-29%)HP:0000085

Hyperpigmented macules

Occasional (5-29%)HP:0001034

Hypoplastic mandible condyle

Occasional (5-29%)HP:0000347

No development of motor milestones

Occasional (5-29%)HP:0001270

Palpebronasal fold

Occasional (5-29%)HP:0000286

partial or complete syndactyly 2nd-3rd toes

Occasional (5-29%)HP:0004691

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Prominent swayback

Occasional (5-29%)HP:0003307

Retrognathia

Occasional (5-29%)HP:0000278

Scoliosis

Occasional (5-29%)HP:0002650

Turridolichocephaly

Occasional (5-29%)HP:0000268

Uneven or disproportionate growth of one body part compared to another

Occasional (5-29%)HP:0100555

Feeding difficulties

HP:0011968

Related Conditions

Anomaly of chromosome pair 20(parent)

Uniparental disomy of maternal origin(parent)

Quick Facts

SNOMED CT: 715735007
UMLS CUI: C4275029
Fully Specified Name: Maternal uniparental disomy of chromosome 20 (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.