Phenotype #0000311200

Individual ID	00419933
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., brachycephaly; no short palperal fissure; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; optic nerve atrophy; strabismus; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2w-onset seizures, focal seizures; EEG-5y-sharp wave complexs in temporal regions; persistence of primary teeth; osteopenia; scoliosis; low level of IgG (317), IgA (<7), IgM (21); recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; aminoaciduria; no hydronephrosis; hypoplastic genitalia; VitD deficiency, hyperinsulinemia, hyperparathyroidism, premature adrenarche; bronchiectasis
Inheritance	Familial, autosomal recessive
Age/Examination	15y10m (15 years, 10 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