Global Variome shared LOVD

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

Phenotype #0000231993 Individual ID 00306149 Associated disease ECHS1D Phenotype details hypertonicity MRI-Leigh syndrome developmental delay recurrent metabolic crises with acidosis and ketosis truncal hypotonia hypertonia in extremities non-ambulatory nystagmus dysphagia Diagnosis/Initial Mitochondrial Disease Inheritance Familial, autosomal recessive Diagnosis/Definite ECHS1 disease Age/Examination 08y (8 years) Age/Diagnosis 06y Age/Onset 00y13m Phenotype/Onset - Protein Has enzymatic studies confirming ECHS1 disease Owner name Mariella Simon Database submission license No license selected Created by Mariella Simon Date created 2020-07-09 00:42:38 +02:00 (CEST) Date last edited 2020-07-09 14:14:49 +02:00 (CEST)

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