OBO ID: DOID:0050963
Term Name: spinocerebellar ataxia type 13 Search Ontology:
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13
References:
Ontology: Human Disease   ( DOID:0050963 )
Relationships
is a type of:
OTHER spinocerebellar ataxia type 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNC3 Spinocerebellar ataxia 13 605259
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.