← Back to Conditions

Chromosome 17q12 duplication syndrome

disorder
SNOMED 764435003CUI C3281137

Overview

Chromosome 17q12 duplication 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.

Cortical dysplasia
Frequent (30-79%)HP:0002539
Atria septal defect
Occasional (5-29%)HP:0001631
Autoagression
Occasional (5-29%)HP:0100716
Brachydactyly
Occasional (5-29%)HP:0001156
Broad thumbs
Occasional (5-29%)HP:0011304
Cleft of palate
Occasional (5-29%)HP:0000175
Cleft soft palate
Occasional (5-29%)HP:0000185
Deep set eye
Occasional (5-29%)HP:0000490
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Epilepsy
Occasional (5-29%)HP:0001250
Esophageal atresia
Occasional (5-29%)HP:0002032
Flat philtrum
Occasional (5-29%)HP:0000319
Glaucoma
Occasional (5-29%)HP:0000501
Hydramnios
Occasional (5-29%)HP:0001561
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Inverted triangular face
Occasional (5-29%)HP:0000325
Language impairment
Occasional (5-29%)HP:0002463
Low facial muscle tone
Occasional (5-29%)HP:0000297
Nanophthalmos
Occasional (5-29%)HP:0000568
Partial syndactyly
Occasional (5-29%)HP:0006101
Peters anomaly
Occasional (5-29%)HP:0000659
Speech difficulties
Occasional (5-29%)HP:0000750
Syndactyly of feet
Occasional (5-29%)HP:0001770
Tracheoesophageal fistula
Occasional (5-29%)HP:0002575
Truncal hypotonia
Occasional (5-29%)HP:0008936
Unibrow
Occasional (5-29%)HP:0000664
Vertebral anomalies
Occasional (5-29%)HP:0003468
Nonprogressive mental retardation
HP:0001249

Related Conditions

17q partial trisomy syndrome(parent)

Quick Facts

SNOMED CT
764435003
UMLS CUI
C3281137
Fully Specified Name
17q12 microduplication syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
28
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.