foveal hypoplasia 3
MONDO:0975805Mondo
Findings
No curated finding names foveal hypoplasia 3 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
20 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.
- Abnormal foveal pit on macular OCTHPOHP:0030622
- 1 of 1 reported patient
- Absent foveal reflexHPOHP:0030825
- 4 of 4 reported patients
- Accommodative esotropiaHPOHP:0020046
- 3 of 3 reported patients
- Compensatory face turn to the rightHPOHP:0031707
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 3 of 3 reported patients
- Hypoplasia of the foveaHPOHP:0007750
- 3 of 3 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 1 reported patient
- High hypermetropiaHPOHP:0008499
- 2 of 3 reported patients
- Moderately reduced visual acuityHPOHP:0030515
- 2 of 3 reported patients
- Compensatory chin elevationHPOHP:0001477
- 2 of 4 reported patients
- Compensatory head tilt to the left shoulderHPOHP:0031710
- 1 of 3 reported patients
- Mildly reduced visual acuityHPOHP:0032037
- 1 of 3 reported patients
Show the remaining 8
- Moderate hypermetropiaHPOHP:0031729
- 1 of 3 reported patients
- Abnormal anterior eye segment morphologyHPOHP:0004328
- 0 of 3 reported patients
- Abnormal electroretinogramHPOHP:0000512
- 0 of 2 reported patients
- Color vision defectHPOHP:0000551
- 0 of 3 reported patients
- EEG abnormalityHPOHP:0002353
- 0 of 2 reported patients
- NystagmusHPOHP:0000639
- 0 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.
- AHRHGNC:348
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of