Global Variome shared LOVD

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

Phenotype #0000242999 Individual ID 00324429 Associated disease OCA Diagnosis/Initial albinism Diagnosis/Definite albinism Phenotype details nystagmus, anomalous head posture, grade 1 foveal hypoplasia, misrouting on VEP Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis 05y Age/Onset - Phenotype/Onset - Owner name Mervyn Thomas Database submission license No license selected Created by Johan den Dunnen Date created 2020-12-13 10:48:25 +01:00 (CET) Date last edited N/A

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