Phenotype #0000257127

Individual ID	00361725
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	CDG2N
Inheritance	Familial, autosomal recessive
Phenotype details	birth length normal; birth weight normal; OFC normal; length 5th; weight 25th; OFC 50th; no head control; not sitting; assisted walking; severe intellectual disability ; severe hypotonia; strabismus; myoclonic seizures; hyperreflexia; MRI severe atrophy of the cerebellar vermis and hemispheres
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-08 11:48:33 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD