Clinical Signs and Symptoms
ORPHA:505652 CDKL5-related epileptic encephalopathy
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.
- Generalized tonic seizures HP:0010818
- Abnormal muscle tone HP:0003808
- Broad forehead HP:0000337
- Broad proximal phalanges of the hand HP:0009852
- Bruxism HP:0003763
- Deep philtrum HP:0002002
- Deeply set eye HP:0000490
- Delayed gross motor development HP:0002194
- Difficulty walking HP:0002355
- Everted lower lip vermilion HP:0000232
- Focal-onset seizure HP:0007359
- Gait disturbance HP:0001288
- Growth delay HP:0001510
- Impaired pain sensation HP:0007328
- Inappropriate laughter HP:0000748
- Infantile spasms HP:0012469
- Moderate global developmental delay HP:0011343
- Multifocal epileptiform discharges HP:0010841
- Poor eye contact HP:0000817
- Poor head control HP:0002421
- Prominent forehead HP:0011220
- Severe global developmental delay HP:0011344
- Sleep-wake cycle disturbance HP:0006979
- Stereotypical hand wringing HP:0012171
- Thick vermilion border HP:0012471
Specialised Social Services
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.