Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000104340 Individual ID 00132146 Associated disease MCPH5 Phenotype details ultrasound no microcephaly; birth OFC (SD-4), length (SD-1.3), weight (SD-1.5); OFC (SD-5.5), length (SD+0.7), weight (SD+1.1); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain 0.5y-gyral simplification, enlarged subarachnoid spaces, mega cisterna magna 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 09:14:35 +02:00 (CEST) Date last edited 2023-03-07 17:50:01 +01:00 (CET)

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