Global Variome shared LOVD

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Phenotype #0000105068 Individual ID 00132284 Associated disease MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD-0.8); OFC (SD-5.6), length (SD+1.5), weight (SD+0.6); <18m-no walk; speech <3y no first senteence; no epilepsy; WPPSI-III (3.7): FSIQ = 60*/ VIQ = 74/ PIQ = 54/ GCL = 85; MRI brain 3.7y-ventricular enlargement, cerebellar hypoplasia, subcortical hypersignal on T2-weighted images, elongated superior cerebellar peduncles Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 3.7y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nathalie Pouvreau Database submission license No license selected Created by Nathalie Pouvreau Date created 2017-10-25 11:08:56 +02:00 (CEST) Date last edited 2023-03-07 17:22:01 +01:00 (CET)

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