Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the palpebral fissures
Frequent (30-79%)HP:0008050
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Cognitive delay
Frequent (30-79%)HP:0001263
Distortion of face
Frequent (30-79%)HP:0001999
Dull intelligence
Frequent (30-79%)HP:0001249
Dysplastic ears
Frequent (30-79%)HP:0000377
Moderate mental retardation
Frequent (30-79%)HP:0002342
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Autism
Occasional (5-29%)HP:0000717
Bilateral fifth digit clinodactyly
Occasional (5-29%)HP:0004209
Bipolar depression
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
Hypertrophy of nasal tip
Occasional (5-29%)HP:0005274
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased size of skull
Occasional (5-29%)HP:0000256
Macrotia
Occasional (5-29%)HP:0000400
Mental retardation, mild
Occasional (5-29%)HP:0001256
Mental retardation, severe
Occasional (5-29%)HP:0010864
Noncancerous mole
Occasional (5-29%)HP:0000995
Palpebronasal fold
Occasional (5-29%)HP:0000286
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Prominent 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.