Overview
Ampola syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Very frequent (80-99%)HP:0004322
Dull intelligence
Very frequent (80-99%)HP:0001249
High forehead
Very frequent (80-99%)HP:0000348
Seizures
Very frequent (80-99%)HP:0001250
Arachnodactyly
Frequent (30-79%)HP:0001166
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Dry skin
Frequent (30-79%)HP:0000958
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Frontal protuberance
Frequent (30-79%)HP:0002007
Genu valga
Frequent (30-79%)HP:0002857
High arched palate
Frequent (30-79%)HP:0000218
Hooked nose
Frequent (30-79%)HP:0000444
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Micromelia
Frequent (30-79%)HP:0002983
Muscular hypotonia
Frequent (30-79%)HP:0001252
Nostrils anteverted
Frequent (30-79%)HP:0000463
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Space between great toe and second toe
Frequent (30-79%)HP:0001852
Squint
Frequent (30-79%)HP:0000486
Underdeveloped ear cartilage
Frequent (30-79%)HP:0100720
Abnormality of the ureter
Occasional (5-29%)HP:0000069
Atria septal defect
Occasional (5-29%)HP:0001631
Obesity
Occasional (5-29%)HP:0001513
Umbilical hernia
Occasional (5-29%)HP:0001537
Decreased muscle movement
HP:0002375
Flat nasal bridge
HP:0005280
Generalized tonic-clonic seizure (without specification of onset)
HP:0002069
Increased levels of animo acids in urine
HP:0003355
Narrow, high-arched roof of mouth
HP:0002705
Quick Facts
- SNOMED CT
- 784373007
- UMLS CUI
- C0796055
- Fully Specified Name
- Beta-mercaptolactate cysteine disulfiduria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.