Global Variome shared LOVD

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

Phenotype #0000104280 Individual ID 00132089 Associated disease MCPH5 Phenotype details birth OFC (SD-3.8), length (SD-1.5), weight (SD-0.9); OFC (SD-7.5), length (SD-2.5), weight (SD-2.8); <18m-no walk; no epilepsy; MRI brain 0.5y-gyral simplification; behavioral disorders Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 1.7y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nathalie Pouvreau Database submission license No license selected Created by Nathalie Pouvreau Date created 2017-10-23 14:21:18 +02:00 (CEST) Date last edited 2023-03-07 17:07:08 +01:00 (CET)

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