Global Variome shared LOVD

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Phenotype #0000269330 Individual ID 00374119 Associated disease ? Diagnosis/Initial multiple congenital abnormalities Diagnosis/Definite - Phenotype details 24w-fetus, ultrasound intrauterine growth retardation, hygroma, diaphragmatic hernia; autopsy intrauterine growth retardation, hygroma, facial dysmorphism, right retinal coloboma, syndactyly, broad hallux, left diaphragmatic hernia, toe nail hypoplasia; no skin abnomality, no oral abnomality Inheritance Isolated (sporadic) Age/Examination <0d 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 2021-05-23 14:41:29 +02:00 (CEST) Date last edited N/A

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