Global Variome shared LOVD

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Phenotype #0000349703 Individual ID 00462203 Associated disease NDD Diagnosis/Initial Tetralogy of Fallot,Pierre Robin sequence, dysmorphic features Diagnosis/Definite - Phenotype details see paper; ..., language delay; fine motor delay; gross motor delay; microcephaly; no epilepsy; abnormal muscle tone; MRI brain normal; dysphagia; tube feeding; cryptorchidism; congenital heart disease Inheritance Isolated (sporadic) Age/Examination 9m 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 2025-02-01 10:13:54 +01:00 (CET) Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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