Phenotype #0000279571

Individual ID	00385758
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1W
Phenotype details	no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; mild motor developmental delay; moderate speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; constipation; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; moderate intellectual disability; delayed puberty
Inheritance	Familial, autosomal dominant
Age/Examination	11y (11 years)
Age/Diagnosis	9m
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