Overview
LIG4 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.
Abnormal curving of the cornea or lens of the eye
Always present (100%)HP:0000483
Acute lymphocytic leukemia
Always present (100%)HP:0006721
Hyperplasia of nose
Always present (100%)HP:0000448
Low birth weight
Always present (100%)HP:0001518
Narrow forehead
Always present (100%)HP:0000341
Reactive airway disease
Always present (100%)HP:0002099
Short penis
Always present (100%)HP:0000054
Abnormality of chromosome stability
Very frequent (80-99%)HP:0003220
Bird-like facial appearance
Very frequent (80-99%)HP:0000320
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Immune deficiency
Very frequent (80-99%)HP:0002721
Poor growth
Very frequent (80-99%)HP:0001510
Acute leukemias
Frequent (30-79%)HP:0002488
Bone marrow disease
Frequent (30-79%)HP:0005561
Cancer of lymphatic system
Frequent (30-79%)HP:0002665
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Decreased volume of lip vermillion
Frequent (30-79%)HP:0000233
Decreased width of the skull
Frequent (30-79%)HP:0004422
Erythema
Frequent (30-79%)HP:0010783
Hooked nose
Frequent (30-79%)HP:0000444
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Low anterior hairline
Frequent (30-79%)HP:0000294
Mongoloid slant
Frequent (30-79%)HP:0000582
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Palpebronasal fold
Frequent (30-79%)HP:0000286
Pancytopenia
Frequent (30-79%)HP:0001876
Severe combined immunodeficiency
Frequent (30-79%)HP:0004430
Quick Facts
- SNOMED CT
- 724177005
- UMLS CUI
- C1847827
- Fully Specified Name
- Ligase 4 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.