Monosomy 7q31

disorder

SNOMED 773326003CUI C4750783

Overview

Monosomy 7q31 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.

Recurrent ear infections

Frequent (30-79%)HP:0410018

Speech delay

Frequent (30-79%)HP:0000750

Verbal dyspraxia

Frequent (30-79%)HP:0011098

Abnormal temper tantrums

Occasional (5-29%)HP:0025160

Abnormal vocalization

Occasional (5-29%)HP:0002167

Abnormality of von Willebrand factor

Occasional (5-29%)HP:0012146

Atria septal defect

Occasional (5-29%)HP:0001631

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Bronchial asthma

Occasional (5-29%)HP:0002099

Childhood onset sensorineural hearing impairment

Occasional (5-29%)HP:0011474

Clinodactyly of the 2nd finger

Occasional (5-29%)HP:0040022

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Convergent squint

Occasional (5-29%)HP:0020045

Deglutition disorder

Occasional (5-29%)HP:0002015

Delayed skeletal development

Occasional (5-29%)HP:0002750

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Enlarged cochlear aqueduct

Occasional (5-29%)HP:0011388

Enuresis nocturna

Occasional (5-29%)HP:0010677

Galactosuria

Occasional (5-29%)HP:0012023

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Growth delay as children

Occasional (5-29%)HP:0008897

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Hyperplasia of nose

Occasional (5-29%)HP:0000448

Hypoplasia of the olfactory bulb

Occasional (5-29%)HP:0040326

Hypoplastic cochlea

Occasional (5-29%)HP:0008586

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased intercanthal distance

Occasional (5-29%)HP:0000506

Increased length of philtrum

Occasional (5-29%)HP:0000343

Intrauterine growth retardation, IUGR

Occasional (5-29%)HP:0001511

Large head

Occasional (5-29%)HP:0000256

Related Conditions

7q partial monosomy(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 773326003
UMLS CUI: C4750783
Fully Specified Name: 7q31 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.