Term Name: optic atrophy 7
Synonyms: 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.
Ontology: Human Disease [DOID:0111437]   ( DOID:0111437 )

Relationships
is a type of: autosomal recessive disease optic atrophy