dominant optic atrophy plus syndrome

Term ID

DOID:0111340

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. (2)

References

• GARD:5243
• MIM:125250
• SNOMEDCT_US_2023_03_01:715374003
• UMLS_CUI:C3276549

Ontology

Human Disease   ( DOID:0111340 )