Global Variome shared LOVD

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

Phenotype #0000079159 Individual ID 00100942 Associated disease COXPD1 Phenotype details hypsarrhythmia (HP:0002521), failure to thrive (HP:0001508), dystonia (HP:0001332), squint (HP:0000486), decreased complex IV activity (HP:0008347) in muscle and fibroblast, normal for complex I and III Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y00m07d Phenotype/Onset - Protein - Owner name Mariella Simon Database submission license No license selected Created by Mariella Simon Date created 2017-03-15 02:34:34 +01:00 (CET) Date last edited 2017-03-17 10:44:27 +01:00 (CET)

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