Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Beta-galactosidase-1 deficiency
Always present (100%)HP:0008166
Flattened vertebral bodies
Always present (100%)HP:0000926
Hunched back
Always present (100%)HP:0002808
Scoliosis
Always present (100%)HP:0002650
Speech and language difficulties
Always present (100%)HP:0000750
Ataxia
Frequent (30-79%)HP:0001251
Cavus foot
Frequent (30-79%)HP:0001761
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Anterior tongue-like protrusion of lumbar vertebral bodies
HP:0008430
Corneal stromal opacity
HP:0007759
Decreased body height
HP:0004322
Diffuse cerebral atrophy
HP:0002506
Dystonic disease
HP:0001332
Enlarged liver
Excluded (<1%)HP:0002240
Epilepsy
Excluded (<1%)HP:0001250
Flared iliac wings
HP:0002869
Foamy macrophages
HP:0003651
Hypoplastic acetabula
HP:0003274
Increased reflexes
HP:0001347
Involuntary jerking movements
Excluded (<1%)HP:0001336
Large spleen
Excluded (<1%)HP:0001744
Macular cherry red spot
Excluded (<1%)HP:0010729
Mental retardation, mild
HP:0001256
Muscle degeneration
HP:0003202
Slurred speech
HP:0001350
Thickened facial skin with coarse facial features
Excluded (<1%)HP:0000280
Related Conditions
Quick Facts
- SNOMED CT
- 238027003
- UMLS CUI
- C0268273
- Fully Specified Name
- Adult GM1 gangliosidosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.