Clinical Signs and Symptoms
ORPHA:228360 CLN5 disease
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of visual evoked potentials HP:0000649
- Atrophy/Degeneration affecting the central nervous system HP:0007367
- Behavioral abnormality HP:0000708
- Corpus callosum atrophy HP:0007371
- Focal-onset seizure HP:0007359
- Inability to walk HP:0002540
- Seizures HP:0001250
- Visual impairment HP:0000505
Very frequent
- Abnormality of central motor function HP:0011442
- Aggressive behavior HP:0000718
- Ataxia HP:0001251
- Cerebellar atrophy HP:0001272
- Cerebral cortical atrophy HP:0002120
- Clumsiness HP:0002312
- Dysdiadochokinesis HP:0002075
- Dysmetria HP:0001310
- EEG with focal spikes HP:0011193
- EEG with generalized slow activity HP:0010845
- EEG with spike-wave complexes HP:0010850
- Focal myoclonic seizures HP:0011166
- Generalized-onset seizure HP:0002197
- Hyperactivity HP:0000752
- Hyperreflexia HP:0001347
- Language impairment HP:0002463
- Mental deterioration HP:0001268
- Multifocal epileptiform discharges HP:0010841
- Nystagmus HP:0000639
- Periventricular white matter hyperdensities HP:0030891
- Poor gross motor coordination HP:0007015
- Postural instability HP:0002172
- Sleep disturbance HP:0002360
- Spasticity HP:0001257
- Truncal ataxia HP:0002078
- Unsteady gait HP:0002317
Frequent
- Anxiety HP:0000739
- Autistic behavior HP:0000729
- Hallucinations HP:0000738
- Obsessive-compulsive trait HP:0008770
- Tremor HP:0001337
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.