Global Variome shared LOVD

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

Phenotype #0000104278 Individual ID 00132088 Associated disease MCPH5 Phenotype details birth OFC (SD-6.7), length (SD-5.2), weight (SD-3.2); OFC (SD-5.8), length (SD-1), weight (SD-1.4); no epilepsy; MRI brain 0.6y-gyral simplification; thin corpus callosum; subcortical hypersignal on T2-weighted images; hyperpigmentation spot Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 0.6y 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 14:03:28 +02:00 (CEST) Date last edited 2023-03-07 18:16:59 +01:00 (CET)

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