Monosomy 19p13.13

disorder

SNOMED 764440006CUI C3150894

Overview

Monosomy 19p13.13 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

Large head

Very frequent (80-99%)HP:0000256

Protruding forehead

Very frequent (80-99%)HP:0011220

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Cognitive delay

Frequent (30-79%)HP:0001263

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Functional abnormality of the gastrointestinal tract

Frequent (30-79%)HP:0012719

Nostrils anteverted

Frequent (30-79%)HP:0000463

Pectus excavatum

Frequent (30-79%)HP:0000767

Poor school performance

Frequent (30-79%)HP:0001249

Squint

Frequent (30-79%)HP:0000486

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Arnold Chiari type I malformation

Occasional (5-29%)HP:0007099

Atrophy of the corpus callosum

Occasional (5-29%)HP:0007371

Cafe-au-lait spots

Occasional (5-29%)HP:0000957

Clinodactyly

Occasional (5-29%)HP:0030084

Concave bridge of nose

Occasional (5-29%)HP:0005280

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Deep wrinkles in soles of feet

Occasional (5-29%)HP:0001869

Diarrhea

Occasional (5-29%)HP:0002014

Dropped arches

Occasional (5-29%)HP:0001763

Enophthalmos

Occasional (5-29%)HP:0000490

Epilepsy

Occasional (5-29%)HP:0001250

Feeding difficulties

Occasional (5-29%)HP:0011968

Flat philtrum

Occasional (5-29%)HP:0000319

Fluid-filled cyst in spinal cord

Occasional (5-29%)HP:0003396

High arched palate

Occasional (5-29%)HP:0000218

Hypoplastic optic nerves

Occasional (5-29%)HP:0000609

Hypotrophic malar bone

Occasional (5-29%)HP:0000272

Increased distance between eyes

Occasional (5-29%)HP:0000316

Related Conditions

Deletion of short arm of chromosome 19(parent)

Quick Facts

SNOMED CT: 764440006
UMLS CUI: C3150894
Fully Specified Name: 19p13.13 microdeletion 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.