Global Variome shared LOVD

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

Phenotype #0000104336 Individual ID 00132123 Associated disease MCPH5 Phenotype details birth OFC (SD-2.7), length (SD-0.5), weight (SD-1); OFC (SD-3.4); <18m-walk; no epilepsy; 3y6m-Bayley III DQ95; MRI brain 1.7y-gyral simplification; arachnoid cyst in the posterior fossa; enlarged Virchow-Robin spaces Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 03y (3 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 08:37:43 +02:00 (CEST) Date last edited 2023-03-07 17:26:28 +01:00 (CET)

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