Global Variome shared LOVD

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Phenotype #0000350823 Individual ID 00465285 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite - Phenotype details see paper; ..., birth OFC 34 cm (-0.95); OFC 49 cm (-2.77); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ30); hypertonia; tonic seizures; autism, hyperactive; MRI brain abnormal T2 signal in anterior temporal lobes; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism Inheritance Familial, autosomal recessive Age/Examination 6y3m (6 years, 3 months) 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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