Global Variome shared LOVD

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Phenotype #0000070592 Individual ID 00092257 Associated disease MCAHS2;GPIBD4 Phenotype details profound IDD, dysmorphisms, infantile spasms, contractures, brain intramyelin edema, mixed hearing loss,liver dysfunction; lipoprotein lipase deficiency / mitochondrial complex I and IV deficiency / elevated alkaline phosphatase; Maple Syrup Disease-like features on brain MRI Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - 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 2016-12-16 19:09:22 +01:00 (CET) Date last edited N/A

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