Clinical Signs and Symptoms
ORPHA:397725 COASY protein-associated neurodegeneration
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.
- Abnormal caudate nucleus morphology HP:0002339
- Abnormal corpus striatum morphology HP:0010994
- Abnormal globus pallidus morphology HP:0002453
- Abnormality of thalamus morphology HP:0010663
- Cognitive impairment HP:0100543
- Difficulty walking HP:0002355
- Dysarthria HP:0001260
- Eye of the tiger anomaly of globus pallidus HP:0002454
- Obsessive-compulsive behavior HP:0000722
- Oromandibular dystonia HP:0012048
- Parkinsonism HP:0001300
- Peripheral axonal neuropathy HP:0003477
- Spastic paraparesis HP:0002313
Very frequent
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.
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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.