optic atrophy 12
MONDO:0033549Mondo
Findings
No curated finding names optic atrophy 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal retinal nerve fiber layer morphologyHPOHP:0020119
- 22 of 22 reported patients
- Abnormality of visual evoked potentialsHPOHP:0000649
- 2 of 2 reported patients
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 1 of 1 reported patient
- BlindnessHPOHP:0000618
- 3 of 3 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- CNS demyelinationHPOHP:0007305
- 1 of 1 reported patient
- CSF oligoclonal immunoglobulin G bandsHPOHP:6000397
- 1 of 1 reported patient
- DyschromatopsiaHPOHP:0007641
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 2 of 2 reported patients
- GlaucomaHPOHP:0000501
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 28
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- OphthalmoparesisHPOHP:0000597
- 1 of 1 reported patient
- Optic atrophyHPOHP:0000648
- 7 of 7 reported patients
- Optic disc pallorHPOHP:0000543
- 8 of 8 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
- Peripheral neuropathyHPOHP:0009830
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AFG3L2HGNC:315
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025