visual impairment and progressive phthisis bulbi
MONDO:0032655Mondo
Findings
No curated finding names visual impairment and progressive phthisis bulbi yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Flat corneaHPOHP:0007720
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- Phthisis bulbiHPOHP:0000667
- 3 of 3 reported patients · Young adult onset
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients · Congenital onset
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.
- MARK3HGNC:6897
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · G2P · Autosomal recessive · 2018
Where it sits
- A kind of