Global Variome shared LOVD

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

Phenotype #0000079162 Individual ID 00100949 Associated disease COXPD1 Phenotype details developmental delay (HP:0001263), seizures (HP:0001250), hypotonia (HP:0001290), episodic metabolic acidosis (HP:0004911) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <01y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-03-17 10:55:30 +01:00 (CET) Date last edited N/A

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