Global Variome shared LOVD

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Phenotype #0000311218 Individual ID 00419951 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite CDG2B Phenotype details see paper; ..., long eyelashes; broad nasal tip or nasal arch; no smooth philtrum; retrognathia; hirsutism; visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; <12m-onset seizures, tonic seizure, spasms; EEG-no hypsarrhythmia, multifocal spikes; bone abnormalties; low IgG2; recurrent infections; gastroesophageal reflux; ; ; elevated cortisol, progesterone, androstenedion; chronic lymphocytosis; Inheritance Familial, autosomal recessive Age/Examination 19y (19 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 2022-10-27 12:30:38 +02:00 (CEST) Date last edited N/A

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