Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000311214 Individual ID 00419947 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite CDG2B Phenotype details see paper; ..., 9m-deceased; long eyelashes; no broad nasal tip or nasal arch; high-arched palate; ; developmental delay; sensorineural hearing impairment; no seisures; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism; Inheritance Familial, autosomal recessive Age/Examination 9m 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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