Global Variome shared LOVD

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Phenotype #0000350817 Individual ID 00465279 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite - Phenotype details see paper; ..., OFC 51.5 cm (-2.63); cranial dysmorphism; severe developmental delay; severe intellectual disability; febrile seizures; hyperactive, stereotypies; MRI brain normal; cryptorchidism; no hepatobiliary anomalies Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-05-05 17:43:47 +02:00 (CEST) Date last edited N/A

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