Global Variome shared LOVD

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

Phenotype #0000353697 Individual ID 00468544 Associated disease MCOP Phenotype details anophthalmia; MRI brain left cerebellar hemisphere hypoplasia; intellectual disability; cryptorchidism Diagnosis/Initial anophthalmia/microphthalmia Inheritance Isolated (sporadic) Diagnosis/Definite MCOPS3 Age/Examination 8y (8 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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