Global Variome shared LOVD

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

Phenotype #0000357596 Individual ID 00472801 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite NEDFSAB Phenotype details developmental delay, hypotonia, abnormal EEG, brain hypomyelination Inheritance Isolated (sporadic) Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-28 14:29:51 +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.