Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Reduced tissue palmitoyl-protein thioesterase activity
Always present (100%)HP:6000783
Vascular granular osmiophilic material deposition
Always present (100%)HP:0003657
Psychomotor deterioration
Very frequent (80-99%)HP:0002361
Epilepsy
Frequent (30-79%)HP:0001250
Abolished electroretinogram
HP:0000550
Ataxia
HP:0001251
Cerebral atrophy
HP:0002059
Decreased light- and dark-adapted electroretinogram amplitude
HP:0000654
Decreased visual acuity, progressive
HP:0000529
Depressive episode
HP:0000716
Electroencephalogram abnormal
HP:0002353
Enlarged lysosomal vacuoles in lymphocytes
Excluded (<1%)HP:0001922
Flexion contractures
HP:0001371
Generalised decreased muscle tone
HP:0001290
Hallucinations
HP:0000738
Increased neuronal autofluorescent lipopigment
HP:0002074
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Irritable mood
HP:0000737
Jerking
HP:0001336
Laboratory abnormality
HP:0001939
Legal blindness
HP:0000618
Loss of speech
HP:0002371
Mental and motor retardation
HP:0001263
Microcephaly, progressive
HP:0000253
Muscular hypotonia
HP:0001252
Optic atrophy
HP:0000648
Pigmented macular degeneration
HP:0000608
Poor school performance
HP:0001249
Postnatal microcephaly
HP:0005484
Retinal degeneration
HP:0000546
Quick Facts
- SNOMED CT
- 58258004
- UMLS CUI
- C0268281
- Fully Specified Name
- Infantile 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.