Global Variome shared LOVD

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

Phenotype #0000343439 Individual ID 00454829 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SCAR4 Phenotype details see paper; ..., axial hypotonia, leg spasticity, primary microcephaly, idiopathic short stature; MRI brain hypoplastic corpus callosum, decreased white matter Inheritance Familial, autosomal recessive Age/Examination 1d Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-09-28 10:13:26 +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.