Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Abnormal pupil morphology
Very frequent (80-99%)HP:0000615
Absent tear secretion
Very frequent (80-99%)HP:0000522
Decrease in blood pressure upon standing up
Very frequent (80-99%)HP:0001278
Decreased sweating
Very frequent (80-99%)HP:0000966
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Impaired pain sensation
Very frequent (80-99%)HP:0007328
Malignant hyperthermia
Very frequent (80-99%)HP:0002047
Neuropathy
Very frequent (80-99%)HP:0009830
Retarded growth
Very frequent (80-99%)HP:0001510
Sweating
Very frequent (80-99%)HP:0000975
Ataxia
Frequent (30-79%)HP:0001251
Behavioural disorders
Frequent (30-79%)HP:0000708
Corneal erosion
Frequent (30-79%)HP:0200020
Gait disturbance
Frequent (30-79%)HP:0001288
High blood pressure
Frequent (30-79%)HP:0000822
Peripheral hypotonia
Frequent (30-79%)HP:0001252
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Scoliosis
Frequent (30-79%)HP:0002650
Abnormal peritoneum morphology
Occasional (5-29%)HP:0002585
Abnormal pleura morphology
Occasional (5-29%)HP:0002103
Breakdown of bone
Occasional (5-29%)HP:0002797
Epilepsy
Occasional (5-29%)HP:0001250
Frequent fractures
Occasional (5-29%)HP:0002757
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Glomerulopathy
Occasional (5-29%)HP:0100820
Heterochromia iridis
Occasional (5-29%)HP:0001100
Hyponatremia
Occasional (5-29%)HP:0002902
Near sighted
Occasional (5-29%)HP:0000545
Optic atrophy
Occasional (5-29%)HP:0000648
Related Conditions
Quick Facts
- SNOMED CT
- 29159009
- UMLS CUI
- C0013364
- Fully Specified Name
- Familial dysautonomia (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.