Phenotype #0000311221

Individual ID 00419954
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite CDG2B
Phenotype details see paper; ..., 9y-deceased; short palperal fissure; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; hypotonia; 32d-onset seizures, generalized tonic seizure; EEG-suppression burst pattern; ; low IgA (median 19, 11-27), IgG (540, 495-584); recurrent infections; hypoventilation; no cardiac abnormalities; hepatomegaly; elevated aminotransferase and ALT; ; cirrhosis, arthrogryposis
Inheritance Familial, autosomal recessive
Age/Examination 9y (9 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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