Global Variome shared LOVD

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Phenotype #0000104339 Individual ID 00132145 Associated disease MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; OFC (SD-8.5), length (SD+0.5); <18m-walk; speech <3y first senteence; 6m-epilepsy; hyperactivity, enuresis Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 09y (9 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 09:09:03 +02:00 (CEST) Date last edited 2023-03-07 17:47:27 +01:00 (CET)

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