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5q35 microduplication syndrome

disorder
SNOMED 719665003CUI C4304526

Overview

5q35 microduplication 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.

Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Growth deficiency
Very frequent (80-99%)HP:0001510
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Specific learning disability
Very frequent (80-99%)HP:0001328
Behavioural disorders
Frequent (30-79%)HP:0000708
Delayed skeletal development
Frequent (30-79%)HP:0002750
Near sighted
Frequent (30-79%)HP:0000545
Seizures
Occasional (5-29%)HP:0001250

Quick Facts

SNOMED CT
719665003
UMLS CUI
C4304526
Fully Specified Name
5q35 microduplication syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
9
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.