Global Variome shared LOVD

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Phenotype #0000104281 Individual ID 00132090 Associated disease MCPH5 Phenotype details ultrasound no microcephaly; birth OFC (SD-3.4), length (SD0), weight (SD+1.1); OFC (SD-4.1), length (SD-0.8), weight (SD+0.9); <18m-no walk; speech <3y no first senteence; no epilepsy Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nathalie Pouvreau Database submission license No license selected Created by Nathalie Pouvreau Date created 2017-10-23 14:34:17 +02:00 (CEST) Date last edited 2023-03-07 17:13:21 +01:00 (CET)

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