Monosomy 13q34

disorder

SNOMED 766716004CUI C4707797

Overview

Monosomy 13q34 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.

Distortion of face

Very frequent (80-99%)HP:0001999

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Obesity

Very frequent (80-99%)HP:0001513

Very poor growth

Very frequent (80-99%)HP:0001510

Abnormality of the coagulation cascade

Frequent (30-79%)HP:0003256

Broad, upturned nose

Frequent (30-79%)HP:0000455

Convex bridge of nose

Frequent (30-79%)HP:0000426

Decreased size of cranium

Frequent (30-79%)HP:0000252

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Hyperplasia of nose

Frequent (30-79%)HP:0000448

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased width of the forehead

Frequent (30-79%)HP:0000337

Abnormal earlobe morphology

Occasional (5-29%)HP:0000363

Abnormal uterus bleeding

Occasional (5-29%)HP:0100608

Body fails to respond to insulin

Occasional (5-29%)HP:0000855

Common atrium

Occasional (5-29%)HP:0011565

Fallen arches

Occasional (5-29%)HP:0001763

Fatty liver

Occasional (5-29%)HP:0001397

Frequent nosebleeds

Occasional (5-29%)HP:0000421

Hematochezia

Occasional (5-29%)HP:0002573

Hypoplastic mandible condyle

Occasional (5-29%)HP:0000347

Lack of eyebrow curvature

Occasional (5-29%)HP:0011228

Low factor II activity

Occasional (5-29%)HP:0008151

Mild fetal hydronephrosis

Occasional (5-29%)HP:0010945

Palpebronasal fold

Occasional (5-29%)HP:0000286

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Prolonged activated partial thromboplastin time

Occasional (5-29%)HP:0003645

Pulmonary stenosis

Occasional (5-29%)HP:0001642

Absence of corpus callosum

Very rare (1-4%)HP:0001274

Related Conditions

Deletion of long arm of chromosome 13(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 766716004
UMLS CUI: C4707797
Fully Specified Name: Monosomy 13q34 syndrome (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.