isolated optic nerve hypoplasia
MONDO:0008136Mondo
Findings
No curated finding names isolated optic nerve hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Reduced visual acuityHPOHP:0007663
- 8 of 8 reported patients
- Visual impairmentHPOHP:0000505
- 8 of 8 reported patients
- NystagmusHPOHP:0000639
- 4 of 8 reported patients
- Optic nerve hypoplasiaHPOHP:0000609
- 4 of 8 reported patients
- Optic nerve aplasiaHPOHP:0012521
- 2 of 8 reported patients
- Remnants of the hyaloid vascular systemHPOHP:0007968
- 2 of 8 reported patients
- Morning glory anomalyHPOHP:0025514
- 1 of 8 reported patients
Where it sits
Other names
3 names
Resolves to: isolated optic nerve hypoplasia
- Also called
- familial bilateral optic nerve hypoplasiaoptic nerve hypoplasia, bilateraloptic nerve hypoplasia, familial bilateral