Global Variome shared LOVD

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Phenotype #0000027908 Individual ID 00034505 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; neurodevelopmental delay, global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, seizures, craniosynostosis, recurrent pneumonia, sple-nomegally 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 2015-03-20 22:21:56 +01:00 (CET) Date last edited N/A

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