Global Variome shared LOVD

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Phenotype #0000350818 Individual ID 00465280 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite - Phenotype details see paper; ..., birth OFC 37 cm (1.41); OFC 51 cm (-2.18); cranial dysmorphism; severe developmental delay; severe Intellectual disability; normal muscle tone; absence seizures, myoclonic seizures, generalized tonic clonic seizures; stereotypies, anxiety; MRI brain bilateral high T2/low T1 signal in the putamina; no genitourinary anomalies; no hepatobiliary anomalies; no hepatobiliary anomalies; no skeletal anomalies; strabismus Inheritance Familial, autosomal recessive Age/Examination 10y (10 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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