Global Variome shared LOVD

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Phenotype #0000352851 Individual ID 00467639 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CDG2L Phenotype details see paper; ..., intra-uterine growth retardation; mental motor retardation, iugr, perinatal asphyxia, microcephaly, seizure, patent ductus arteriosus, bilateral iris coloboma, hypothyroidism, horizontal nystagmus; abcent of MRI; operate patent ductus arteriosus Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-24 22:46:25 +02:00 (CEST) Date last edited N/A

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