Global Variome shared LOVD

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

Phenotype #0000105066 Individual ID 00132282 Associated disease MCPH5 Phenotype details ultrasound no microcephaly; OFC (SD-4.3), length (SD-2), weight (SD-1.2); <18m-walk; speech <3y no first senteence; no epilepsy Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nathalie Pouvreau Database submission license No license selected Created by Nathalie Pouvreau Date created 2017-10-25 10:49:12 +02:00 (CEST) Date last edited 2023-03-07 18:08:49 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.