Phenotype #0000311219

Individual ID	00419952
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., short palperal fissure; broad nasal tip or nasal arch; high-arched palate; no smooth philtrum; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; intellectual disability; hypotonia; demyelination; sensorineural hearing impairment; 2m-onset seizures, myoclonic seizures, generalized tonic seizure; EEG-suppression burst pattern, small spike at occipital-parietal-temporal; low IgA (median 21, 10-451), IgG (median 535, 408-1380); recurrent infections; no cardiac abnormalities; hepatomegaly; elevated aminotransferase; hypoplastic genitalia; hyponatremia; thrombocytopenia coagulation; transient atrioventricular block, arthrogryposis
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 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