Global Variome shared LOVD

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Phenotype #0000104337 Individual ID 00132143 Associated disease MCPH5 Phenotype details OFC (SD-7.2), length (SD-3.7), weight (SD-1.9); no epilepsy; 7y-Stanford Binet DQ56; MRI brain 7y-gyral simplification, mild ventricular enlargement, thin corpus callosum and brainstem Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nathalie Pouvreau Database submission license No license selected Created by Nathalie Pouvreau Date created 2017-10-24 08:45:50 +02:00 (CEST) Date last edited 2023-03-07 17:29:27 +01:00 (CET)

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