Global Variome shared LOVD

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

Phenotype #0000340704 Individual ID 00452101 Associated disease ? Diagnosis/Initial citrullinemia Diagnosis/Definite CTLN1 Phenotype details citrullinemia, developmental delay, seizures, spasticity, tremor, ataxia Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-07-09 18:59:25 +02:00 (CEST) Date last edited 2024-07-09 19:10:59 +02:00 (CEST)

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