Global Variome shared LOVD

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Phenotype #0000350812 Individual ID 00465274 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite - Phenotype details see paper; ..., 7m-deceasaed; birth OFC 32.5 cm (-0.66); cranial dysmorphism; severe developmental delay; limb contractures; no seizures; MRI brain periventricular heterotopia, hypoplastic cerebellum and optic nerves; cystic renal dysplasia, cryptorchidism, short penis; intra- and extrahepatic bile duct dilation; hypoplastic aortic arch, patent ductus arteriosus, atrial septal defect; contractures, upper thoracic hemivertebra; bilateral coloboma; cleft lip and palate, sensorineural hearing loss, failure to thrive, hernias, respiratory failure, aortic and inferior vena cana thrombi Inheritance Familial, autosomal recessive Age/Examination 7m 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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