mitochondrial DNA depletion syndrome 7

Term ID

DOID:0080126

Synonyms

• infantile onset spinocerebellar ataxia

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. (3)

References

• GARD:4062
• MESH:C535523
• OMIM:271245

Ontology

Human Disease   ( DOID:0080126 )