Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aspiration
HP:0002835
Delay in head control
HP:0002421
Epilepsy
HP:0001250
Generalised decreased muscle tone
HP:0001290
GM2-ganglioside accumulation
HP:0003495
Increased startle response
HP:0002267
Lack of feeling, emotion, interest
HP:0000741
Legal blindness
HP:0000618
Macular cherry red spot
HP:0010729
Muscular hypotonia
HP:0001252
Paleness
HP:0000980
Progressive dementia
HP:0000726
Psychomotor deterioration
HP:0002361
Spasticity and rigidity of muscles
HP:0001276
Related Conditions
Quick Facts
- SNOMED CT
- 238024005
- UMLS CUI
- C1848916
- Fully Specified Name
- B1 variant hexosaminidase A deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.