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optic atrophy 7
Summary
- Synonym
-
- OPA7
- optic atrophy 7 with or without auditory neuropathy
- Definition
- An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
- Super Class
- autosomal recessive disease optic atrophy
External Links
- Disease Ontology
- DOID:0111437
- Mondo Disease Ontology
- MeSH
- OMIM
