Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
HP:0001251
Athetoid movements
HP:0002305
Central hypotonia
HP:0001252
Difficulty articulating speech
HP:0001260
Enlarged lysosomal vacuoles in lymphocytes
HP:0001922
Epilepsy
HP:0001250
Generalised decreased muscle tone
HP:0001290
Inability to walk
HP:0002540
Increased thickness of cranium
HP:0002684
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Involuntary, rapid, rhythmic eye movements
HP:0000639
Laboratory abnormality
HP:0001939
Mental and motor retardation
HP:0001263
Mental-retardation
HP:0001249
Outward facing eye ball
HP:0000577
Speech and language difficulties
HP:0000750
Very poor growth
HP:0001510
Related Conditions
Quick Facts
- SNOMED CT
- 87074006
- UMLS CUI
- C1096903
- Fully Specified Name
- Salla disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.