Global Variome shared LOVD

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

Phenotype #0000325442 Individual ID 00435246 Associated disease CLS Phenotype details Neurodevelopmental delay, Hypotonia, Hyporeflexia, Large fontanelles, Hypoplasia of the corpus callosum Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-06-21 16:24:01 +02:00 (CEST) Date last edited 2023-06-23 11:14:05 +02:00 (CEST)

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