foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
MONDO:0012216Mondo
Findings
No curated finding names foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 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
- Infantile 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.
- AstigmatismHPOHP:0000483
- 9 of 9 reported patients
- Hypoplasia of the foveaHPOHP:0007750
- 9 of 9 reported patients
- NystagmusHPOHP:0000639
- 9 of 9 reported patients · Infantile onset
- Reduced visual acuityHPOHP:0007663
- 9 of 9 reported patients · Infantile onset
- StrabismusHPOHP:0000486
- 6 of 9 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.
- SLC38A8HGNC:32434
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
- Also called
- FHONDA syndromefoveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesisfoveal hypoplasia type 2