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

• OMIM:619405

Ontology

Human Disease   ( DOID:0070411 )