3-methylglutaconic aciduria type 3

Term ID

DOID:0110004

Synonyms

• 3-methylglutaconic aciduria type III
• autosomal recessive optic atrophy plus syndrome
• autosomal recessive optic atrophy type 3
• Costeff optic atrophy syndrome
• Costeff syndrome
• infantile optic atrophy with chorea and spastic paraplegia
• Iraqi-Jewish optic atrophy plus
• MGA3

Definition

A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. (2)

References

• OMIM:258501
• ORDO:67047

Ontology

Human Disease   ( DOID:0110004 )