Overview
19p13.3 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.
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed language development
Very frequent (80-99%)HP:0000750
Dysmorphic facies
Very frequent (80-99%)HP:0001999
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Delayed motor milestones
Frequent (30-79%)HP:0001270
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Large nose
Frequent (30-79%)HP:0000448
Long fingers
Frequent (30-79%)HP:0100807
Low-set ears
Frequent (30-79%)HP:0000369
Moderate mental retardation
Frequent (30-79%)HP:0002342
Narrow mouth
Frequent (30-79%)HP:0000160
Near sighted
Frequent (30-79%)HP:0000545
Nonverbal
Frequent (30-79%)HP:0001344
Palpebronasal fold
Frequent (30-79%)HP:0000286
Prominent lips
Frequent (30-79%)HP:0012471
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Very poor growth
Frequent (30-79%)HP:0001510
Autoagression
Occasional (5-29%)HP:0100716
Cavus foot
Occasional (5-29%)HP:0001761
Cleft of palate
Occasional (5-29%)HP:0000175
Curvature of digit
Occasional (5-29%)HP:0030084
Degeneration of cerebrum
Occasional (5-29%)HP:0002059
Developmental dysplasia of the hip
Occasional (5-29%)HP:0001385
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Dyschezia
Occasional (5-29%)HP:0002019
Episodic vomiting
Occasional (5-29%)HP:0002572
Quick Facts
- SNOMED CT
- 1229883008
- UMLS CUI
- C5679996
- Fully Specified Name
- 19p13.3 microduplication 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.