Global Variome shared LOVD

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Phenotype #0000311210 Individual ID 00419943 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite CDG2B Phenotype details see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; cortical visual impairment; developmental delay; hypotonia; sensorineural hearing impairment; no seisures; EEG-possible left posterior epileptiform activity; osteopenia; no scoliosis; normal IgM, very low IgG and IgA; recurrent infections; hypoventilation; apnea; intraatrial connection; no constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; mild left-sided pelvicalyceal dilatation in kidney Inheritance Familial, autosomal recessive Age/Examination 21d Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-27 12:30:38 +02:00 (CEST) Date last edited N/A

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