Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Difficulty finding words
Very frequent (80-99%)HP:0002381
Dull intelligence
Very frequent (80-99%)HP:0001249
Echologia
Very frequent (80-99%)HP:0010529
Flat philtrum
Very frequent (80-99%)HP:0000319
Hair loss
Very frequent (80-99%)HP:0001596
Hypotrichosis
Very frequent (80-99%)HP:0008070
Increased height of lower lip vermilion
Very frequent (80-99%)HP:0000179
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Inverted triangular face
Very frequent (80-99%)HP:0000325
Joint dislocation
Very frequent (80-99%)HP:0001373
Large mouth
Very frequent (80-99%)HP:0000154
Mutism
Very frequent (80-99%)HP:0002300
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Short hands
Very frequent (80-99%)HP:0004279
Specific learning disability
Very frequent (80-99%)HP:0001328
Thickening of the alae nasi
Very frequent (80-99%)HP:0009928
Thinning scalp hair
Very frequent (80-99%)HP:0002209
Wide philtrum
Very frequent (80-99%)HP:0000289
Abnormal distribution of hair
Frequent (30-79%)HP:0010720
Abnormalities of the fingers
Frequent (30-79%)HP:0001167
Anomaly of the testes
Frequent (30-79%)HP:0000035
Aortic coarctation
Frequent (30-79%)HP:0001680
Blepharophimosis
Frequent (30-79%)HP:0000581
Broad 2nd toe
Frequent (30-79%)HP:0100040
Quick Facts
- SNOMED CT
- 401046009
- UMLS CUI
- C1303073
- Fully Specified Name
- Nicolaides-Baraitser 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.