Global Variome shared LOVD

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

Phenotype #0000305412 Individual ID 00413438 Associated disease ? Diagnosis/Initial - Diagnosis/Definite NEDSEBA Phenotype details see paper; ..., developmental delay, seizures, mild microcephaly (-2.6 SD); MRI brain prominent central and cortical atrophy temporal lobes Inheritance Familial, autosomal recessive Age/Examination - 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 2022-07-18 14:12:05 +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.