Global Variome shared LOVD

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Phenotype #0000324393 Individual ID 00434014 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details birth OFC (SD-4.3), length (SD-1.3), weight (SD-1.3); OFC (SD-4.3), length (SD-3.8), weight (SD-2.5); <18m-walk; speech <3y first senteence; no epilepsy; MRI brain 13.8y-hypersignal of the thalamus in T2-weighted images Inheritance Familial, autosomal recessive Age/Examination 16y (16 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 21:41:13 +01:00 (CET) Date last edited N/A

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