Global Variome shared LOVD

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Phenotype #0000324387 Individual ID 00434008 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details ultrasound no microcephaly; birth OFC (SD-4), length (SD-1.9), weight (SD-1.8); OFC (SD-6.2), length (SD-1.9), weight (SD-0.3); <18m-walk; speech <3y no first senteence; no epilepsy; 12y-FSIQ70; MRI brain 9y-gyral simplification; vermis hypoplasia; scoliosis, hyperpigmentation spot, inverted nipples Inheritance Familial, autosomal recessive Age/Examination 21.5y 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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