Phenotype #0000279562

Individual ID	00385749
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1W
Phenotype details	no intrauterine growth retardation; OFC 95th; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); short arms; osteoarthritis; muscle cramps; muscle hypertrophy; mild intellectual disability
Inheritance	Familial, autosomal dominant
Age/Examination	27y (27 years)
Age/Diagnosis	17y
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