Global Variome shared LOVD

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

Phenotype #0000351405 Individual ID 00466020 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite - Phenotype details see paper; ..., simplified gyration; pontocerebellar hypoplasia; seizures; Intellectual disability Inheritance Isolated (sporadic) Age/Examination 5y6m (5 years, 6 months) 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 2025-07-07 15:39:31 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.