Phenotype #0000311217

Individual ID 00419950
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite CDG2B
Phenotype details see paper; ..., 1y-deceasedbroad nasal tip or nasal arch; ; hirsutism; ; ; developmental delay; ; 21d-onset seizures; ; low level of IgA; recurrent infections; hypoventilation; apnea; cardiomyopathy; hepatomegaly; hydronephrosis; intravascular; hypogonadism
Inheritance Familial, autosomal recessive
Age/Examination 1y (1 year)
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.