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cognitive impairment with or without cerebellar ataxia
Disease Summary
Associated Targets (1)
Tclin
1
Uniprot Description A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.
Mondo Term and Equivalent IDs
MONDO:0013680: cognitive impairment with or without cerebellar ataxia
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614306
UMLS:C3280415
MONDO:0013680
High level summary of knowledge for a disease, including descriptions and datasource references.