Global Variome shared LOVD

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Phenotype #0000350820 Individual ID 00465282 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite - Phenotype details see paper; ..., 7y-deceasaed; birth OFC 32.5 cm (-0.95); OFC 3y-45.5 cm (-4.01); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; central hypotonia; febrile clonic seizures; stereotypies; MRI brain L mesial temporal sclerosis, asymmetric cerebral hemisphere atrophy; no genitourinary anomalies; no hepatobiliary anomalies; small ventricular septal defect; no skeletal anomalies; cortical blindness; cyclic neutropenia Inheritance Familial, autosomal recessive Age/Examination 7y (7 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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