Global Variome shared LOVD

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Phenotype #0000270801 Individual ID 00375587 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth OFC normal, weight 3.7kg, length 50cm; ; 11m-died from pneumonia; developmental delay (HP:0001263); dysgenesis of corpus callosum (HP:0006989); recurrent fever (HP:0001954); inflammatory arthritis (HP:0001369); eptic arthritis (HP:0003095); no muscular hypotonia (-HP:0001252); abdomil distention (HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 4m 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 2021-06-11 23:06:52 +02:00 (CEST) Date last edited N/A

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