Global Variome shared LOVD

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Phenotype #0000272164 Individual ID 00376970 Associated disease NDD Diagnosis/Initial syndromic neurodevelopmental disorder Diagnosis/Definite COFG Phenotype details see paper; ..., corneal dystrophy, strabismus, nystagmus, absent labia majora, cerebellar malformation, facial dysmorphism, global development delay, scrotal agenesis Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-28 13:00:13 +02:00 (CEST) Date last edited N/A

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