Phenotype #0000279566

Individual ID	00385753
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1W
Phenotype details	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; mild motor developmental delay; no speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); epi-metaphyseal dysplasia; no osteoarthritis; muscle cramps; muscle hypertrophy; moderate intellectual disability; normal pregnancy
Inheritance	Isolated (sporadic)
Age/Examination	24y (24 years)
Age/Diagnosis	22y
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