optic atrophy 11
Findings
No curated finding names optic atrophy 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.
Definition from the Mondo Disease Ontology (MONDO:0015011), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
46 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.
- Expressive language delayHPOHP:0002474
- 4 of 4 reported patients
- Fiber type groupingHPOHP:0033685
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- LeukoencephalopathyHPOHP:0002352
- 4 of 4 reported patients
- Motor delayHPO
Show the remaining 34
- ConstipationHPOHP:0002019
- 3 of 4 reported patients · Infantile onset
- DysmetriaHPOHP:0001310
- 3 of 4 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 4 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 4 reported patients
- MyopiaHPOHP:0000545
- 3 of 4 reported patients
- Short statureHPOHP:0004322
- 3 of 4 reported patients
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.
- YME1L1HGNC:12843
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: optic atrophy 11
- Also called
- autosomal recessive isolated optic atrophy caused by mutation in YME1L1OPA11optic atrophy type 11YME1L1 autosomal recessive isolated optic atrophy