Global Variome shared LOVD

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Phenotype #0000272159 Individual ID 00376965 Associated disease ? Diagnosis/Initial syndromic scrotal agenesis Diagnosis/Definite - Phenotype details see paper; ..., corneal dystrophy, buphthalmos, strabismus, nystagmus, cerebellar malformation; facial dysmorphism;global development delay; scrotal agenesis Inheritance Familial, autosomal recessive Age/Examination 07y (7 years) 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 2021-06-28 12:02:46 +02:00 (CEST) Date last edited N/A

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