Global Variome shared LOVD

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

Phenotype #0000353691 Individual ID 00468538 Associated disease MCOP Phenotype details anophthalmia, microphthalmia, coloboma; MRI brain corpus callosum hypoplasia; intellectual disability; hypogonadism, micropenis Diagnosis/Initial anophthalmia/microphthalmia Inheritance Unknown Diagnosis/Definite MCOPS3 Age/Examination 4y (4 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 2025-11-10 17:03:53 +01:00 (CET) Date last edited N/A

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