Clinical Signs and Symptoms
ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome
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.
- Cognitive impairment HP:0100543
- Hypertonia HP:0001276
- Palmoplantar hyperkeratosis HP:0000972
- Unsteady gait HP:0002317
Always present
- Dementia HP:0000726
- EEG with generalized slow activity HP:0010845
- Pseudobulbar signs HP:0002200
- Tetraparesis HP:0002273
Very frequent
- Clumsiness HP:0002312
- Diaphyseal dysplasia HP:0100252
- Muscle weakness HP:0001324
- Papule HP:0200034
- Slurred speech HP:0001350
- Toe walking HP:0040083
Frequent
- Decreased number of peripheral myelinated nerve fibers HP:0003380
- Hypoplasia of the corpus callosum HP:0002079
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.