Phenotype #0000350819

Individual ID 00465281
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite -
Phenotype details see paper; ..., 8y-deceasaed; birth OFC 33.7 cm (-1.18); severe developmental delay; severe Intellectual disability; febrile clonic seizures; MRI brain hypoplastic corpus callosum; bilateral dilated pyelum and hydronephrosis, mega-ureter; bicuspid aortic valve, patent ductus arteriosus; cyclic neutropenia
Inheritance Familial, autosomal recessive
Age/Examination 8y (8 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 2025-05-05 17:43:47 +02:00 (CEST)
Date last edited N/A

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