Leber congenital amaurosis 17
Findings
No curated finding names Leber congenital amaurosis 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014145), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Ultra-low vision with retained motion projectionHPOHP:0032284
- 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.
- GDF6HGNC:4221
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: Leber congenital amaurosis 17
- Also called
- GDF6 Leber congenital amaurosisLCA17Leber congenital amaurosis caused by mutation in GDF6Leber congenital amaurosis type 17