Global Variome shared LOVD

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

Phenotype #0000292438 Individual ID 00399319 Associated disease OCA Diagnosis/Initial Albinism Diagnosis/Definite Foveal Hypoplasia 2 Phenotype details Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 36y Age/Onset - Phenotype/Onset rs1161159416 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 13:46:09 +01:00 (CET) Date last edited 2022-01-21 12:25:24 +01:00 (CET)

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