Phenotype #0000279573

Individual ID	00385760
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1W
Phenotype details	no intrauterine growth retardation; OFC >99th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild-moderate motor developmental delay; mild-moderate speech delay; learning problems; no increased muscle tone, hypotonia; no behavior abnormalities; no strabismus; no short stature; large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy
Inheritance	Familial, autosomal dominant
Age/Examination	3y (3 years)
Age/Diagnosis	21d
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