Phenotype #0000346416

Individual ID	00457966
Associated disease	CDG
Diagnosis/Initial	glycosylation disorder
Diagnosis/Definite	CDG1DD
Phenotype details	see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; no epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral hypoplasia cranial nerves V, VII and VIII; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; hepatosplenomegaly in infancy; obstipation; hypertrichosis arms and legs; severe apnea episodes; contractures elbows and knees
Inheritance	Familial, X-linked recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-23 10:44:42 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD