Global Variome shared LOVD

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

Phenotype #0000350816 Individual ID 00465278 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; cranial dysmorphism; severe developmental delay; severe intellectual disability; hypotonia (infancy), hypertonia; focal seizures; hyperactive; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies Inheritance Familial, autosomal recessive Age/Examination 9y (9 years) 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 2025-05-05 17:43:47 +02:00 (CEST) Date last edited N/A

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