About   Help   FAQ
Due to maintenance, access to MGI may be intermittent starting at 10:00 AM ET Thursday, March 30.
Disease Ontology Browser
mitochondrial DNA depletion syndrome 7 (DOID:0080126)
Alliance: disease page
Synonyms: infantile onset spinocerebellar ataxia; OHAHA SYNDROME
Alt IDs: OMIM:271245, MESH:C535523
Definition: A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
03/21/2023
MGI 6.22
The Jackson Laboratory