Phenotype #0000279576

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00385763
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1W
Phenotype details	no intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, feeding problems, no respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, weak visual tracking, no optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, no liver involvement, no thrombocytopenia, no genital abnormalities
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	2021-10-14 19:21:42 +02:00 (CEST)
Date last edited	N/A