Global Variome shared LOVD

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Phenotype #0000104461 Individual ID 00132271 Associated disease MCPH5 Phenotype details ultrasound microcephaly second and third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD+0.2); OFC (SD-6), length (SD2), weight (SD+1); <18m-walk; no epilepsy; behavioral disorders Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 01y (1 year) 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 14:35:46 +02:00 (CEST) Date last edited 2023-03-07 17:57:07 +01:00 (CET)

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