19q13.11 microdeletion syndrome

disorder

SNOMED 719599008CUI C4304577

Overview

19q13.11 microdeletion syndrome 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.

Cachexia

Very frequent (80-99%)HP:0004326

Congenital scars

Very frequent (80-99%)HP:0001057

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Feeding difficulties

Very frequent (80-99%)HP:0011968

Growth deficiency

Very frequent (80-99%)HP:0001510

Hypospadias

Very frequent (80-99%)HP:0000047

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Low intelligence

Very frequent (80-99%)HP:0001249

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Poor weight gain

Very frequent (80-99%)HP:0001508

Speech difficulties

Very frequent (80-99%)HP:0000750

Accessory nipples

Frequent (30-79%)HP:0002558

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Dry skin

Frequent (30-79%)HP:0000958

Fine hair

Frequent (30-79%)HP:0002213

High forehead

Frequent (30-79%)HP:0000348

Hyperplasia of columella

Frequent (30-79%)HP:0010761

Laterally sparse eyebrows

Frequent (30-79%)HP:0005338

Nail dysplasia

Frequent (30-79%)HP:0002164

Partial syndactyly

Frequent (30-79%)HP:0006101

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Retrognathia

Frequent (30-79%)HP:0000278

Small nasal alae

Frequent (30-79%)HP:0000430

Sparse to absent eyelashes

Frequent (30-79%)HP:0200102

Syndactyly of feet

Frequent (30-79%)HP:0001770

Thin skin

Frequent (30-79%)HP:0000963

Thin, sparse hair

Frequent (30-79%)HP:0008070

Toe curvature

Frequent (30-79%)HP:0001863

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Related Conditions

Intellectual disability(parent)

Deletion of long arm of chromosome 19(parent)

Quick Facts

SNOMED CT: 719599008
UMLS CUI: C4304577
Fully Specified Name: 19q13.11 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.