Phenotype #0000279565

Individual ID	00385752
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG1W
Phenotype details	no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; abnormal fat-distribution; no motor developmental delay; mild speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; MRI brain persistent cavum septum pellucidum; obesity; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; eczema, hyper-trichosis
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	10y
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