Leber congenital amaurosis 9
Findings
No curated finding names Leber congenital amaurosis 9 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 NMNAT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012056), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- Macular pseudocolobomaHPOHP:0001116
- 19 of 19 reported patients
- Reduced visual acuityHPOHP:0007663
- 27 of 27 reported patients
- Retinal dotsHPOHP:0032027
- 8 of 8 reported patients
- HypermetropiaHPOHP:0000540
- 6 of 7 reported patients
- NystagmusHPOHP:0000639
- 12 of 18 reported patients
- Ultra-low vision with retained light perceptionHPOHP:0032286
- 7 of 11 reported patients
- Macular atrophyHPOHP:0007401
Show the remaining 6
- Eye pokingHPOHP:0001483
- 1 of 11 reported patients
- Horizontal nystagmusHPOHP:0000666
- 1 of 11 reported patients
- Macular hypopigmentationHPOHP:0007988
- 1 of 11 reported patients
- Macular scarHPOHP:0200056
- 1 of 11 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 11 reported patients
- Ultra-low visionHPOHP:0032123
- 1 of 11 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.
- NMNAT1HGNC:17877
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 9
- Also called
- LCA9Leber congenital amaurosis caused by mutation in NMNAT1Leber congenital amaurosis type 9NMNAT1 Leber congenital amaurosis