Global Variome shared LOVD

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Phenotype #0000239709 Individual ID 00315964 Associated disease microcephaly Diagnosis/Initial syndromic microcephaly Diagnosis/Definite - Phenotype details microcephaly, facial dysmorphism, nasal bridges, eczema, epilepsy, short stature, global developmental delay Inheritance Familial, autosomal recessive 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 2020-10-30 22:33:09 +01:00 (CET) Date last edited N/A

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