Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
GM2-ganglioside accumulation
Always present (100%)HP:0003495
Mental and motor retardation
Always present (100%)HP:0001263
Myoclonic seizure
Always present (100%)HP:0032794
Peripheral hypotonia
Always present (100%)HP:0001252
Abnormal fear/anxiety-related behavior
Very frequent (80-99%)HP:0100852
Corticospinal signs
Very frequent (80-99%)HP:0007256
Decreased body height
Very frequent (80-99%)HP:0004322
Exaggerated acoustic startle response
Very frequent (80-99%)HP:0002267
Hyperacusis
Very frequent (80-99%)HP:0010780
Increased reflexes
Very frequent (80-99%)HP:0001347
Intellectual impairment
Very frequent (80-99%)HP:0100543
Progressive spastic quadriparesis
Very frequent (80-99%)HP:0002478
Psychomotor regression, progressive
Very frequent (80-99%)HP:0002376
Truncal hypotonia
Very frequent (80-99%)HP:0008936
Abnormal involuntary eye movements
Frequent (30-79%)HP:0012547
Anxiety disease
Frequent (30-79%)HP:0000739
Choreiform movements
Frequent (30-79%)HP:0002072
Glabellar reflex
Frequent (30-79%)HP:0030904
Growth delay as children
Frequent (30-79%)HP:0008897
Inappropriate behavior
Frequent (30-79%)HP:0000719
Macular cherry red spot
Frequent (30-79%)HP:0010729
Seizures
Frequent (30-79%)HP:0001250
Pseudobulbar symptoms
Occasional (5-29%)HP:0002200
Punctate periventricular T2 hyperintense foci
Occasional (5-29%)HP:0030081
Archaic reflex
HP:0002476
Aspiration
HP:0002835
Degeneration of cerebrum
HP:0002059
Delay in head control
HP:0002421
Dystonic disease
HP:0001332
Generalised decreased muscle tone
HP:0001290
Related Conditions
Quick Facts
- SNOMED CT
- 71253000
- UMLS CUI
- C0268275
- Fully Specified Name
- Tay-Sachs disease, variant AB (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.