Global Variome shared LOVD

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Phenotype #0000319004 Individual ID 00428057 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., 4y-died pneumonia/respiratory failure; intrauterine growth retardation; birth 39w, weight 2640 g, length 49 cm, OFC 33.5 cm, bilateral congenital cataract, multiple small haemangiomas; muscular hypotonia, developmental delay, severe failure to thrive, microcephaly; MRI brain hypoplasia corpus callosum, lack of insular opercularization, reduced myelination; drug-resistant epilepsy; 2y6m muscle biopsy normal; severe global developmental delay, dyskinetic movement disorder, epilepsy Inheritance Familial, autosomal recessive Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-20 11:09:57 +01:00 (CET) Date last edited N/A

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