Phenotype #0000223234

Individual ID 00295674
Associated disease CDG
Diagnosis/Initial -
Diagnosis/Definite NGLY1-congenital disorder of deglycosylation
Phenotype details Delayed psychomotor development. Uncoordinated, wide-based gait. Sialorrhea, constipation, and severe hypolacrimation with blepharitis MRI of the brain showed mild cerebral atrophy, and corpus callosum hypoplasia. Acute liver failure.
Inheritance Familial, autosomal recessive
Age/Examination 05y (5 years)
Age/Diagnosis 05y
Age/Onset 00y00m
Phenotype/Onset -
Protein -
Owner name Aida Bertoli-Avella
Database submission license No license selected
Created by Aida Bertoli-Avella
Date created 2020-03-23 18:37:00 +01:00 (CET)
Date last edited 2020-03-28 10:54:06 +01:00 (CET)

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