Phenotype #0000279575

Individual ID	00385762
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1W
Phenotype details	no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; spherocytosis
Inheritance	Familial, autosomal dominant
Age/Examination	3y (3 years)
Age/Diagnosis	3y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-14 19:11:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD