Phenotype #0000279577

Individual ID	00385764
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1X
Phenotype details	intrauterine growth retardation; 4y-deceased; microcephaly, failure to thrive, developmental delay, feeding problems, respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, no visual tracking, optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, liver involvement, thrombocytopenia; genital abnormalities, micropenis, hypoplastic scrotum, undescended testes
Inheritance	Familial, autosomal recessive
Age/Examination	04y (4 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 19:36:02 +02:00 (CEST)
Date last edited	2021-10-14 19:40:36 +02:00 (CEST)

Global Variome shared LOVD