Global Variome shared LOVD

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Phenotype #0000105060 Individual ID 00132276 Associated disease MCPH5 Phenotype details ultrasound no microcephaly; birth OFC (SD-7.2), length (SD-1.1), weight (SD-0.3); OFC (SD-7), length (SD-3), weight (SD-2.2); <18m-no walk; speech <3y no first senteence; 1y6m-epilepsy; MRI brain 0.3y-gyral simplification, thin corpus callosum, pineal cyst, large arachnoid cyst in the posterior fossa; left middle ear hypoplasia, behavioral disorders Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 3.3y 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 08:36:29 +02:00 (CEST) Date last edited 2023-03-07 17:58:50 +01:00 (CET)

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