You are using an outdated browser. Please upgrade your browser to improve your experience.
X-linked non progressive cerebellar ataxia
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
Mondo Term and Equivalent IDs
MONDO:0010404: X-linked non progressive cerebellar ataxia
Download Data for X-linked non progressive cerebellar ataxia
data still loading...
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 Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567478
OMIM:300703
Orphanet:314978
SCTID:766818009
UMLS:C2678048
MONDO:0010404
High level summary of knowledge for a disease, including descriptions and datasource references.