Global Variome shared LOVD

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Phenotype #0000324394 Individual ID 00434015 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details ultrasound no microcephaly; birth OFC (SD-4), length (SD-0.8), weight (SD-0.9); OFC (SD-6.5), length (SD-1.5), weight (SD-1); <18m-no walk; speech <3y no first senteence; paroxysmal events; MRI brain 11y-gyral simplification, scaphocephaly; enlarged Virchow-Robin spaces, mild enlarged ventricles; scoliosis 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 21:41:13 +01:00 (CET) Date last edited N/A

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