Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased visual acuity
Always present (100%)HP:0007663
Enlarged lysosomal vacuoles in lymphocytes
Always present (100%)HP:0001922
Fingerprint profiles ultrastructurally
Always present (100%)HP:0003208
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Loss of ambulation
Always present (100%)HP:0002505
Parkinsonian disease
Always present (100%)HP:0001300
Progressive visual loss
Always present (100%)HP:0000529
Psychomotor deterioration
Always present (100%)HP:0002361
Retinal degeneration
Always present (100%)HP:0000546
Abolished electroretinogram
HP:0000550
Anxiety disease
HP:0000739
Cataract
HP:0000518
Cerebellar signs
HP:0001317
Difficulty articulating speech
HP:0001260
Dull intelligence
HP:0001249
Epilepsy
HP:0001250
Extrapyramidal dysfunction
HP:0002071
Glaucoma
HP:0000501
Increased extraneuronal autofluorescent lipopigment
HP:0003463
Intracellular curvilinear profiles on ultrastructural analysis
HP:0003205
Involuntary jerking movements
HP:0001336
Legal blindness
HP:0000618
Neuronal lipopigments
HP:0002074
Optic atrophy
HP:0000648
Pigmented macular degeneration
HP:0000608
Progressive dementia
HP:0000726
Psychosis
HP:0000709
Retinitis pigmentosa
HP:0000510
Supratentorial atrophy
HP:0002059
Symmetric, concentric, hypertrophic cardiomyopathy
HP:0005157
Quick Facts
- SNOMED CT
- 61663001
- UMLS CUI
- C0751383
- Fully Specified Name
- Juvenile neuronal ceroid lipofuscinosis (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.