Global Variome shared LOVD

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Phenotype #0000311216 Individual ID 00419949 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite CDG2B Phenotype details see paper; ..., short palperal fissure; broad nasal tip or nasal arch; ; ; low vision; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; <1m-onset seizures, infantile spasms; EEG-atypical hypsarrhythmia; ; low level of IgG, IgM; recurrent infections; no hypoventilation; no apnea; atrial septal defect, PFO; hepatomegaly; elevated aminotransferase; aminoaciduria; no hypoplastic genitalia; Inheritance Familial, autosomal recessive Age/Examination 2y1m (2 years, 1 month) 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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