Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Beaking of vertebral bodies
Always present (100%)HP:0004568
Beta-galactosidase-1 deficiency
Always present (100%)HP:0008166
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Deglutition disorder
Always present (100%)HP:0002015
Dysostosis multiplex
Always present (100%)HP:0000943
Enlarged liver
Always present (100%)HP:0002240
Flat facial shape
Always present (100%)HP:0012368
Gait disturbance
Always present (100%)HP:0001288
Generalised decreased muscle tone
Always present (100%)HP:0001290
Gingival hyperplasia
Always present (100%)HP:0000212
Hypoplastic vertebral bodies
Always present (100%)HP:0008479
Lingual protrusion
Always present (100%)HP:0010808
Narrow mouth
Always present (100%)HP:0000160
PDA
Always present (100%)HP:0001643
Premature birth
Always present (100%)HP:0001622
Regression of motor skills
Always present (100%)HP:0033044
Short limbs
Always present (100%)HP:0009826
Stiff joint
Always present (100%)HP:0001387
Thickened facial skin with coarse facial features
Always present (100%)HP:0000280
Thin cortices
Always present (100%)HP:0002753
Thoracolumbar gibbus deformity
Always present (100%)HP:0005619
Undergrowth
Always present (100%)HP:0001508
Ataxia
HP:0001251
Coxa valga deformity
HP:0002673
Developmental stagnation
HP:0007281
Dilated cerebral ventricle
HP:0002119
Flattened vertebral bodies
HP:0000926
Generalized myoclonic seizure
HP:0002123
Large spleen
Excluded (<1%)HP:0001744
Optic atrophy
HP:0000648
Related Conditions
Quick Facts
- SNOMED CT
- 18756002
- UMLS CUI
- C0268272
- Fully Specified Name
- Juvenile 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.