Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Central hypotonia
Always present (100%)HP:0001252
Developmental stagnation at onset of seizures
Always present (100%)HP:0006834
Generalised brain degeneration
Always present (100%)HP:0002283
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Hyporeflexia of upper limbs
Always present (100%)HP:0012391
Irritability
Always present (100%)HP:0000737
Multifocal EEG abnormality
Always present (100%)HP:0010841
Neurodevelopmental regression
Always present (100%)HP:0002376
Psychomotor development deficiency
Always present (100%)HP:0001263
Undergrowth
Always present (100%)HP:0001508
Vomiting
Always present (100%)HP:0002013
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Decreased size of cranium
Occasional (5-29%)HP:0000252
Hypoacusis
Occasional (5-29%)HP:0000365
Choreoathetoid movements
HP:0001266
Cortical blindness
HP:0100704
Hyperpigmented macules
HP:0001034
Jerking
HP:0001336
Lower limb hyperreflexia
HP:0002395
No speech development
HP:0001344
Optic atrophy
HP:0000648
Prolonged seizure
HP:0002133
Visual loss
HP:0000572
Quick Facts
- SNOMED CT
- 722762005
- UMLS CUI
- C1836824
- Fully Specified Name
- Ganglioside GM3 synthase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.