Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dull intelligence
Always present (100%)HP:0001249
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal shape of shaft of long bone
Very frequent (80-99%)HP:0000940
Absent/small abdominal wall muscles
Very frequent (80-99%)HP:0010318
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Arthralgias
Very frequent (80-99%)HP:0002829
Brain imaging abnormality
Very frequent (80-99%)HP:0410263
Brain inflammation
Very frequent (80-99%)HP:0002383
Coarse face
Very frequent (80-99%)HP:0000280
Coarse metaphyseal trabecularization
Very frequent (80-99%)HP:0100670
Decreased beta-galactosidase activity
Very frequent (80-99%)HP:0008166
Enlarged liver
Very frequent (80-99%)HP:0002240
Ganglioside accumulation
Very frequent (80-99%)HP:0004345
Increased reflexes
Very frequent (80-99%)HP:0001347
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Large spleen
Very frequent (80-99%)HP:0001744
Morphological abnormality of the CNS
Very frequent (80-99%)HP:0002011
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Weight loss
Very frequent (80-99%)HP:0001824
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of movement
Frequent (30-79%)HP:0100022
Abnormality of the cerebral white matter
Frequent (30-79%)HP:0002500
Ataxia
Frequent (30-79%)HP:0001251
Cardiac anomaly
Frequent (30-79%)HP:0001627
Cognitive deficits
Frequent (30-79%)HP:0100543
Decreased body height
Frequent (30-79%)HP:0004322
Dermatopathy
Frequent (30-79%)HP:0000951
Diffusely thickened skin
Frequent (30-79%)HP:0001072
Extrapyramidal syndrome
Frequent (30-79%)HP:0002071
Related Conditions
Infantile gangliosidosis with bony involvement(child)
Adult GM1 gangliosidosis(child)
GM1 Gangliosidosis type II(child)
Dysostosis multiplex group(parent)
Gangliosidosis(parent)
Recessive hereditary disorder (autosomal)(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 238025006
- UMLS CUI
- C0085131
- Fully Specified Name
- GM1 gangliosidosis (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.