Global Variome shared LOVD

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

Phenotype #0000233420 Individual ID 00307905 Associated disease ? Diagnosis/Initial - Diagnosis/Definite NEDESBA Phenotype details neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Anju Shukla Database submission license No license selected Created by Johan den Dunnen Date created 2020-08-25 10:33:26 +02:00 (CEST) Date last edited N/A

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