chromosome 16q12 duplication syndrome
MONDO:0859210Mondo
Findings
No curated finding names chromosome 16q12 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- TritanomalyHPOHP:0000552
- 15 of 15 reported patients
- Reduced visual acuityHPOHP:0007663
- 15 of 16 reported patients
- Paracentral hyper-autofluorecenceHPOHP:6000769
- 9 of 16 reported patients
- Central thinning of the outer nuclear layer of the retinaHPOHP:6000367
- 5 of 16 reported patients
- High myopiaHPOHP:0011003
- 5 of 16 reported patients
- Retinal pigment epithelial mottlingHPOHP:0007814
- 5 of 16 reported patients
- CataractHPOHP:0000518
- 4 of 16 reported patients · Adult onset
- NyctalopiaHPOHP:0000662
- 4 of 16 reported patients
- Paracentral scotomaHPOHP:0030528
- 4 of 16 reported patients
- Temporal optic disc pallorHPOHP:0012511
- 3 of 16 reported patients
- AnisocoriaHPOHP:0009916
- 1 of 16 reported patients
- PhotophobiaHPOHP:0000613
Where it sits
- A kind of