Global Variome shared LOVD

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

Phenotype #0000355141 Individual ID 00469996 Associated disease MCOP Phenotype details see paper; ..., 1d-vision impairment; developmentally delay, behavioral issues, hearing loss; 7y-no stand without support, no speech Diagnosis/Initial anophthalmia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-25 14:51:24 +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.