isolated microphthalmia 8
Findings
No curated finding names isolated microphthalmia 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014050), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- AnophthalmiaHPOHP:0000528
- 4 of 6 reported patients
- EntropionHPOHP:0000621
- 2 of 3 reported patients
- Short palpebral fissureHPOHP:0012745
- 2 of 3 reported patients
- Hypoplastic optic chiasmHPOHP:0034311
- 3 of 6 reported patients
- MicrophthalmiaHPOHP:0000568
- 3 of 6 reported patients
- Optic nerve hypoplasiaHPOHP:0000609
- 3 of 6 reported patients
- Retinal colobomaHPOHP:0000480
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.
- ALDH1A3HGNC:409
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: isolated microphthalmia 8
- Also called
- ALDH1A3 isolated microphthalmiaALDH1A3-related isolated microphthalmiaisolated microphthalmia caused by mutation in ALDH1A3MCOP8microphthalmia, isolated 8