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
Microtia, first degree
Always present (100%)HP:0011266
Nonprogressive mental retardation
Always present (100%)HP:0001249
Simple ear
Always present (100%)HP:0020206
Upswept frontal hair pattern
Always present (100%)HP:0002236
Absent anus
Very frequent (80-99%)HP:0002023
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Protruding forehead
Very frequent (80-99%)HP:0011220
Cryptorchidism
Frequent (30-79%)HP:0000028
Dyschezia
Frequent (30-79%)HP:0002019
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
Seizures
Frequent (30-79%)HP:0001250
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
Clinodactyly
HP:0030084
Congenital hypotonia
HP:0001319
Contractures of the hands
HP:0009473
Delayed motor milestones
HP:0001270
Facial wrinkling
HP:0009762
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.