Global Variome shared LOVD

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

Phenotype #0000351389 Individual ID 00466002 Associated disease SMALED1 Phenotype details Neurodevelopmental delay, Gait ataxia, Hypotonia, Elevated circulating hepatic transaminase concentration Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-07-03 11:13:01 +02:00 (CEST) Date last edited 2025-07-08 16:27:56 +02:00 (CEST)

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