Overview
Trisomy 1q21.1 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.
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental deficiency
Very frequent (80-99%)HP:0001249
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased size of skull
Frequent (30-79%)HP:0000256
Arthrogryposis multiplex
Occasional (5-29%)HP:0002804
Autism
Occasional (5-29%)HP:0000717
Cataract
Occasional (5-29%)HP:0000518
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Cryptorchidism
Occasional (5-29%)HP:0000028
Developmental dysplasia of the hip
Occasional (5-29%)HP:0001385
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Foot, talipes equinovarus
Occasional (5-29%)HP:0001762
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Glaucoma
Occasional (5-29%)HP:0000501
Hallucinations
Occasional (5-29%)HP:0000738
Hypertonia
Occasional (5-29%)HP:0001276
Hypospadias
Occasional (5-29%)HP:0000047
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Postnatal failure to thrive
Occasional (5-29%)HP:0001508
Schizophrenia
Occasional (5-29%)HP:0100753
Seizures
Occasional (5-29%)HP:0001250
Squint
Occasional (5-29%)HP:0000486
Tetrology of fallot
Occasional (5-29%)HP:0001636
Quick Facts
- SNOMED CT
- 771337007
- UMLS CUI
- C4749853
- Fully Specified Name
- 1q21.1 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.