Global Variome shared LOVD

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

Phenotype #0000333630 Individual ID 00444377 Associated disease MCOP Phenotype details see paper; ..., bilateral severe microphthalmia/anophthalmia; speech delay, atrophy cerebral cortex, delayed brain myelination, corpus callosal hypoplasia, hippocampal anomaly Diagnosis/Initial microphthalmia Inheritance Familial Diagnosis/Definite MCOPCB10 Age/Examination - 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 2023-12-23 17:05:31 +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.