Global Variome shared LOVD

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Phenotype #0000324389 Individual ID 00434010 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-5.6), length (SD-2.5), weight (SD-2.4); OFC (SD-7.8), length (SD-0.2), weight (SD-1.1); <18m-walk; no epilepsy; MRI brain 0.2y-gyral simplification; abnormality of helix Inheritance Familial, autosomal recessive Age/Examination 2.7y 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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