Global Variome shared LOVD

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Phenotype #0000350822 Individual ID 00465284 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite - Phenotype details see paper; ..., birth OFC 33.5 cm (-0.90); OFC 48.5 cm (-3.43); cranial dysmorphism; severe developmental delay; severe intellectual disability (IQ35); hypertonia; no seizures; autism, hyperactive; MRI brain bright hippocampi; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism Inheritance Familial, autosomal recessive Age/Examination 8y1m (8 years, 1 month) 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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