Global Variome shared LOVD

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

Phenotype #0000324391 Individual ID 00434012 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details birth OFC (SD-2.9), length (SD-1), weight (SD-1.1); OFC (SD-3.9), length (SD+0.3), weight (SD+0.1); <18m-walk; speech <3y no first senteence; no epilepsy; WPPSI-IV (7.2): FSIQ = 58*/ VCI = 86/ FRI = 63/ WMI = 56/ PSI = 66; MRI brain 5y-gyral simplification; enlarged Virchow-Robin spaces; mega cisterna magna; behavioral disorders Inheritance Familial, autosomal recessive Age/Examination 11.3y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-03-16 21:41:13 +01:00 (CET) Date last edited N/A

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