Term Name: dominant optic atrophy plus syndrome
Synonyms: DOA+, optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Definition: A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
Ontology: Human Disease [DOID:0111340]   ( DOID:0111340 )

Relationships
is a type of: autosomal dominant disease syndrome