Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000292467 Individual ID 00399350 Associated disease FVH2 Phenotype details Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and optic nerve misrouting (HP:0025551) Diagnosis/Initial PAX6 related phenotype Inheritance Familial, autosomal recessive Diagnosis/Definite Foveal Hypoplasia 2 Age/Examination - Age/Diagnosis 10y Age/Onset - Phenotype/Onset - Protein - Owner name Mohammed A.M Derar Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Mohammed A.M Derar Date created 2022-01-19 16:47:04 +01:00 (CET) Date last edited 2022-01-19 21:34:18 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.