Version: 8.0.0
Date: Tue Jan 28 2025
optic atrophy 7
DOID:0111437
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

optic atrophy 7

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.
Synonyms
  • OPA7
  • optic atrophy 7 with or without auditory neuropathy
Cross References
Parent Terms
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None
Sources of Associations

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