Global Variome shared LOVD

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Phenotype #0000105061 Individual ID 00132277 Associated disease MCPH5 Phenotype details ultrasound microcephaly second and third trimester pregnancy; birth OFC (SD-4.3), length (SD-0.5), weight (SD0); OFC (SD-5.6), length (SD-1.4), weight (SD-1.7); <18m-walk; speech <3y no first senteence; 6y-epilepsy; 9y3m-DQ34; MRI brain 7y-gyral simplification, polymicrogyria in fronto-insular region 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 2017-10-25 08:43:35 +02:00 (CEST) Date last edited 2023-03-07 18:01:00 +01:00 (CET)

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