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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 and language difficulties
Frequent (30-79%)HP:0000750
Speech 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
Childhood onset sensorineural hearing impairment
Occasional (5-29%)HP:0011474
Clinodactyly of the 2nd finger
Occasional (5-29%)HP:0040022
Convergent squint
Occasional (5-29%)HP:0020045
Decreased projection of maxilla
Occasional (5-29%)HP:0000327
Deglutition disorder
Occasional (5-29%)HP:0002015
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
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Global developmental delay, severe
Occasional (5-29%)HP:0011344
Growth delay as children
Occasional (5-29%)HP:0008897
hyperkinetic disorder
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
Large mouth
Occasional (5-29%)HP:0000154

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.

Monosomy 7q31 — Symptoms, Testing & Specialists | Ltrl | Healos