Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Feeding difficulties
Very frequent (80-99%)HP:0011968
Flexion contractures
Very frequent (80-99%)HP:0001371
Hunched back
Very frequent (80-99%)HP:0002808
Hypertonia
Very frequent (80-99%)HP:0001276
Hypohidrosis
Very frequent (80-99%)HP:0000966
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Large facies
Very frequent (80-99%)HP:0100729
Malignant hyperthermia
Very frequent (80-99%)HP:0002047
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Scoliosis
Very frequent (80-99%)HP:0002650
Sudden cardiac death
Very frequent (80-99%)HP:0001645
Sweating
Very frequent (80-99%)HP:0000975
High arched palate
Frequent (30-79%)HP:0000218
Intellectual impairment
Frequent (30-79%)HP:0100543
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Epilepsy
Occasional (5-29%)HP:0001250
Mental deficiency
Occasional (5-29%)HP:0001249
Narrow mouth
Occasional (5-29%)HP:0000160
Arc de cercle
HP:0002179
Big cheeks
HP:0000293
Camptodactyly
HP:0012385
Concave bridge of nose
HP:0005280
Corneal inflammation
HP:0000491
Dropped arches
HP:0001763
Facial palsy
HP:0010628
Feeding difficulties in infancy
HP:0008872
Fetal foot inversion
HP:0001762
Fixed flexion at the elbow joint
HP:0002987
Quick Facts
- SNOMED CT
- 702363009
- UMLS CUI
- C1832409
- Fully Specified Name
- Cold-induced sweating 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.