Global Variome shared LOVD

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

Phenotype #0000340641 Individual ID 00451987 Associated disease CTLN1 Phenotype details phenotype outcome severe Diagnosis/Initial hyperammonemic encephalopathy Inheritance Familial, autosomal recessive Diagnosis/Definite CTLN1 Age/Examination - Age/Diagnosis - Age/Onset 1d 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 2024-07-05 11:48:37 +02:00 (CEST) Date last edited N/A

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