Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Apnea
Always present (100%)HP:0002104
Ataxia
Always present (100%)HP:0001251
Atrophic cerebellum
Always present (100%)HP:0001272
Cerebral atrophy
Always present (100%)HP:0002059
Intellectual deterioration
Always present (100%)HP:0001268
Mental retardation, severe
Always present (100%)HP:0010864
Retinal atrophy
Always present (100%)HP:0001105
Retinitis pigmentosa
Always present (100%)HP:0000510
Decreased size of cranium
Frequent (30-79%)HP:0000252
Epilepsy
Frequent (30-79%)HP:0001250
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Low-set ears
Frequent (30-79%)HP:0000369
Peripheral sensory axonal neuropathy
Frequent (30-79%)HP:0003390
Vascular granular osmiophilic material deposition
Frequent (30-79%)HP:0003657
Increased width of bridge of nose
Occasional (5-29%)HP:0000431
Myoclonic seizure
Occasional (5-29%)HP:0032794
Respiratory failure
Occasional (5-29%)HP:0002878
Sloping forehead
Occasional (5-29%)HP:0000340
Split hand
Occasional (5-29%)HP:0001171
Early closure of the cranial sutures
HP:0005458
Mental-retardation
HP:0001249
Muscle rigidity
HP:0002063
Neuronal lipopigments
HP:0002074
Neuronal loss in CNS
HP:0002529
Prolonged seizure
HP:0002133
Respiratory function loss
HP:0002093
Visual loss
HP:0000572
Quick Facts
- SNOMED CT
- 720830009
- UMLS CUI
- C1864669
- Fully Specified Name
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.