Global Variome shared LOVD

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Phenotype #0000324392 Individual ID 00434013 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.1), length (SD-0.8), weight (SD+0.1); OFC (SD-6.3), length (SD-0.4), weight (SD-1); no epilepsy; MRI brain 0.3y-gyral simplification; thin corpus callosum; enlarged Virchow-Robin spaces; behavioral disorders Inheritance Familial, autosomal recessive Age/Examination 1.4y 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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