Global Variome shared LOVD

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Phenotype #0000104316 Individual ID 00132122 Associated disease MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.5), length (SD-0.2), weight (SD-0.7); OFC (SD-8.5), length (SD-0.2), weight (SD-0.4); <18m-walk; speech <3y no first senteence; 14y-epilepsy; MRI brain 0.8y-gyral simplification, mild ventricular enlargement; scaphocephaly; behavioral disorders Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 19y (19 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 08:26:46 +02:00 (CEST) Date last edited 2023-03-07 17:25:09 +01:00 (CET)

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