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15q13.3 deletion syndrome

disorder
SNOMED 699254009CUI C2677613

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of the palpebral fissures
Frequent (30-79%)HP:0008050
Behavioural disorders
Frequent (30-79%)HP:0000708
Dysplastic ears
Frequent (30-79%)HP:0000377
Funny looking face
Frequent (30-79%)HP:0001999
Low intelligence
Frequent (30-79%)HP:0001249
Mental and motor retardation
Frequent (30-79%)HP:0001263
Moderate mental retardation
Frequent (30-79%)HP:0002342
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Autism
Occasional (5-29%)HP:0000717
Big calvaria
Occasional (5-29%)HP:0000256
Bipolar disorder
Occasional (5-29%)HP:0007302
Brachydactyly
Occasional (5-29%)HP:0001156
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Decreased body height
Occasional (5-29%)HP:0004322
Decreased size of cranium
Occasional (5-29%)HP:0000252
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Epilepsy
Occasional (5-29%)HP:0001250
Frontal protuberance
Occasional (5-29%)HP:0002007
Increased distance between eyes
Occasional (5-29%)HP:0000316
Large tip of nose
Occasional (5-29%)HP:0005274
Macrotia
Occasional (5-29%)HP:0000400
Mental retardation, mild
Occasional (5-29%)HP:0001256
Mental retardation, severe
Occasional (5-29%)HP:0010864
Muscular hypotonia
Occasional (5-29%)HP:0001252
Noncancerous mole
Occasional (5-29%)HP:0000995
Palpebronasal fold
Occasional (5-29%)HP:0000286
Permanent curving of the pinkie finger
Occasional (5-29%)HP:0004209
Protruding ear
Occasional (5-29%)HP:0000411
Schizophrenia
Occasional (5-29%)HP:0100753
Specific learning disability
Occasional (5-29%)HP:0001328

Quick Facts

SNOMED CT
699254009
UMLS CUI
C2677613
Fully Specified Name
Microdeletion of chromosome 15q13.3 (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.