Phenotype #0000279572

Individual ID	00385759
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; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; moderate motor developmental delay; speech delay, nonverbal; learning problems, autism; no increased muscle tone, hypotonia; no behavior abnormalities; strabismus; MRI brain perinatal subdural hematoma; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; severe intellectual disability
Inheritance	Familial, autosomal dominant
Age/Examination	7y (7 years)
Age/Diagnosis	7m
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