Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad big toe
Always present (100%)HP:0010055
Broad thumbs
Always present (100%)HP:0011304
Mental deficiency
Always present (100%)HP:0001249
Microtia, first degree
Always present (100%)HP:0011266
Simple ear
Always present (100%)HP:0020206
Upswept frontal hair pattern
Always present (100%)HP:0002236
Anal atresia
Very frequent (80-99%)HP:0002023
Central hypotonia
Very frequent (80-99%)HP:0001252
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Protruding forehead
Very frequent (80-99%)HP:0011220
Constipation
Frequent (30-79%)HP:0002019
Cryptorchidism
Frequent (30-79%)HP:0000028
Epilepsy
Frequent (30-79%)HP:0001250
Increased distance between eyes
Frequent (30-79%)HP:0000316
Inguinal hernia
Frequent (30-79%)HP:0000023
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Relatively large head
Frequent (30-79%)HP:0004482
Decreased body height
Occasional (5-29%)HP:0004322
Anteriorly displaced anus
HP:0001545
Camptodactyly
HP:0012385
Cardiac anomaly
HP:0001627
Childhood attention deficit/hyperactivity disorder
HP:0007018
Choanal atresia
HP:0000453
Cleft of palate
HP:0000175
Cleft of upper lip
HP:0000204
Congenital hypotonia
HP:0001319
Contractures of the hands
HP:0009473
Curvature of digit
HP:0030084
Facial wrinkling
HP:0009762
Fine hair
HP:0002213
Quick Facts
- SNOMED CT
- 49984004
- UMLS CUI
- C0220769
- Fully Specified Name
- FG 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.