Global Variome shared LOVD

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

Phenotype #0000226949 Individual ID 00299639 Associated disease NDHSAL Phenotype details - Diagnosis/Initial Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Inheritance Familial, autosomal recessive Diagnosis/Definite Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Age/Examination 07y? (approximately 7 years) Age/Diagnosis 07y? Age/Onset ? Phenotype/Onset HP:0000750, HP:0007185, HP:0007240, HP:0003270, HP:0007270, HP:0008936, HP:0000408, HP:0008619, Protein - Owner name Ehsan Razmara Database submission license No license selected Created by Ehsan Razmara Date created 2020-04-18 08:23:28 +02:00 (CEST) Date last edited 2020-04-21 09:17:53 +02:00 (CEST)

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