Global Variome shared LOVD

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Phenotype #0000324302 Individual ID 00433924 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details normal birth weight; weight SD-2.2 , height SD-4, OFC SD-9.3 ; moderate intellectual disability DQ/IQ40; speech is not understandable, hyperactiveshort stature Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) 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 2023-03-16 10:19:22 +01:00 (CET) Date last edited N/A

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