Phenotype #0000311209

Individual ID	00419942
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., no brachycephaly; no short palperal fissure; long eyelashes; no broad nasal tip or nasal arch; ; no visual impairment; no nystagmus; no strabismus; hyperopia; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; no dental abnormalties; no bone abnormalties; no scoliosis; low level of IgG, IgA, IgM; no recurrent infections; no hypoventilation; central and obstructive apnea; cardiac abnormalities; no constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no hypoplastic genitalia; laryngomalacia, central apnea
Inheritance	Familial, autosomal recessive
Age/Examination	1y4m (1 year, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-27 12:30:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD