Global Variome shared LOVD

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Phenotype #0000104338 Individual ID 00132144 Associated disease MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.7), length (SD-2.5), weight (SD-2); OFC (SD-6.4), length (SD-0.6), weight (SD-0.4); <18m-walk; speech <3y no first senteence; no epilepsy; WPPSI-III (5.5): FSIQ = 82*/ VIQ = 75/ PIQ = 90/ GCL = 77; MRI brain 5.5y-white matter hypersignal in T2-weighted images, ventricular enlargement Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 5.5y 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 08:51:45 +02:00 (CEST) Date last edited 2023-03-07 17:35:16 +01:00 (CET)

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