Global Variome shared LOVD

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Phenotype #0000105065 Individual ID 00132281 Associated disease MCPH5 Phenotype details OFC (SD-10.8), length (SD-3.9), weight (SD-3.1); <18m-no walk; no epilepsy; MRI brain 4.3y-thick frontal gyri, gyral simplification; thick corpus callosum; extensive bilateral posterior polymicrogyria; spastic tetraplegia Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nathalie Pouvreau Database submission license No license selected Created by Nathalie Pouvreau Date created 2017-10-25 10:44:19 +02:00 (CEST) Date last edited 2023-03-07 18:06:30 +01:00 (CET)

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