Global Variome shared LOVD

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Phenotype #0000037287 Individual ID 00050675 Associated disease ? Diagnosis/Initial - Diagnosis/Definite HJS1 Phenotype details global developmental delay, deeply set eye, abnormality of vision, myopia, strabismus, generalized hypotonia Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-27 16:16:40 +02:00 (CEST) Date last edited 2025-03-18 15:56:22 +01:00 (CET)

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