Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Enophthalmos
Frequent (30-79%)HP:0000490
High arched palate
Frequent (30-79%)HP:0000218
Increased length of philtrum
Frequent (30-79%)HP:0000343
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Low intelligence
Frequent (30-79%)HP:0001249
Mental and motor retardation
Frequent (30-79%)HP:0001263
Palpebronasal fold
Frequent (30-79%)HP:0000286
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Aortic arch obstruction
Occasional (5-29%)HP:0011611
Autism
Occasional (5-29%)HP:0000717
Broad bone of big toe
Occasional (5-29%)HP:0010059
Broad thumbs
Occasional (5-29%)HP:0011304
Cataract
Occasional (5-29%)HP:0000518
Central hypotonia
Occasional (5-29%)HP:0001252
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Convex bridge of nose
Occasional (5-29%)HP:0000426
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased volume of lip vermillion
Occasional (5-29%)HP:0000233
Decreased volume of upper lip
Occasional (5-29%)HP:0000219
Depressed nasal root/bridge
Occasional (5-29%)HP:0005280
Depression
Occasional (5-29%)HP:0000716
Excessive, persistent worry and fear
Occasional (5-29%)HP:0000739
Foot, talipes equinovarus
Occasional (5-29%)HP:0001762
Heart septal defect
Occasional (5-29%)HP:0001671
High-grade hypermetropia
Occasional (5-29%)HP:0008499
Hydronephrosis
Occasional (5-29%)HP:0000126
Hyperopia
Occasional (5-29%)HP:0000540
Related Conditions
Quick Facts
- SNOMED CT
- 699305004
- UMLS CUI
- C2675897
- Fully Specified Name
- 1q21.1 microdeletion 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.