Global Variome shared LOVD

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Phenotype #0000349807 Individual ID 00462308 Associated disease ? Diagnosis/Initial multiple neonatal malformations Diagnosis/Definite - Phenotype details 20gw-cryptophthalmos, syndactyly, short pharynx with hypoplasia epiglottis, renal agenesis, vaginal atresia Inheritance Familial, autosomal recessive 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 2025-02-09 09:45:32 +01:00 (CET) Date last edited N/A

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