Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal spinal segmentation
Very frequent (80-99%)HP:0003422
Accelerated linear growth
Very frequent (80-99%)HP:0000098
Accessory nipples
Very frequent (80-99%)HP:0002558
Big calvaria
Very frequent (80-99%)HP:0000256
Broad foot
Very frequent (80-99%)HP:0001769
Coarse face
Very frequent (80-99%)HP:0000280
Congenitally fused vertebrae
Very frequent (80-99%)HP:0002948
Cryptorchidism
Very frequent (80-99%)HP:0000028
Enlarged liver
Very frequent (80-99%)HP:0002240
High immunoglobulin E
Very frequent (80-99%)HP:0003212
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Large mouth
Very frequent (80-99%)HP:0000154
Large spleen
Very frequent (80-99%)HP:0001744
Lingual hyperplasia
Very frequent (80-99%)HP:0000158
Mandibular hyperplasia
Very frequent (80-99%)HP:0000303
Multicystic kidney dysplasia
Very frequent (80-99%)HP:0000003
Postaxial hand polydactyly
Very frequent (80-99%)HP:0001162
Rib anomalies
Very frequent (80-99%)HP:0000772
Short toes
Very frequent (80-99%)HP:0001831
Small feet
Very frequent (80-99%)HP:0001773
VSD
Very frequent (80-99%)HP:0001629
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Absent/small abdominal wall muscles
Frequent (30-79%)HP:0010318
Atria septal defect
Frequent (30-79%)HP:0001631
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Broad thumbs
Frequent (30-79%)HP:0011304
Bundle branch block
Frequent (30-79%)HP:0011710
Cleft of palate
Frequent (30-79%)HP:0000175
Quick Facts
- SNOMED CT
- 439143004
- UMLS CUI
- C4317043
- Fully Specified Name
- Simpson-Golabi-Behmel 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.