Phenotype #0000311218

Individual ID	00419951
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., long eyelashes; broad nasal tip or nasal arch; no smooth philtrum; retrognathia; hirsutism; visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; <12m-onset seizures, tonic seizure, spasms; EEG-no hypsarrhythmia, multifocal spikes; bone abnormalties; low IgG2; recurrent infections; gastroesophageal reflux; ; ; elevated cortisol, progesterone, androstenedion; chronic lymphocytosis;
Inheritance	Familial, autosomal recessive
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-27 12:30:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD