Global Variome shared LOVD

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Phenotype #0000323991 Individual ID 00433548 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details microcephaly; sociable, low frustration tolerance, hyperactive, occasional self-injurious behavior, 18m-walk; talks in short meaningful sentences, can name family members/objects; partly take care of self, no reading or writing skills; sloping forehead, narrow bifrontal diameter Inheritance Familial, autosomal recessive Age/Examination 08y (8 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 2023-03-11 20:12:32 +01:00 (CET) Date last edited N/A

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