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Human Disease

autosomal recessive spinocerebellar ataxia 30

Term ID
DOID:0070411
Synonyms
  • SCAR30
Definition
An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. https://pubmed.ncbi.nlm.nih.gov/29764912/
References
Ontology
Human Disease   ( DOID:0070411 )
Relationships
is a type of
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Genes Involved
Zebrafish Models