Global Variome shared LOVD

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

Phenotype #0000330188 Individual ID 00440291 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite CSS1 Phenotype details see paper; ..., birth 39w; intellectual disability.developmental delay; no speech; no seizures; hypotonia; infancy feeding problems/failure to thrive Inheritance Isolated (sporadic) Age/Examination 4y (4 years) 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 2023-10-31 19:36:26 +01:00 (CET) Date last edited N/A

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