Global Variome shared LOVD

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

Phenotype #0000339384 Individual ID 00450323 Associated disease CTLN1 Phenotype details Moderate intellectual disability, mild cerebral cortical atrophy, seizures Diagnosis/Initial Citrullinemia Inheritance Familial, autosomal recessive Diagnosis/Definite Citrullinemia Age/Examination 32y07m (32 years, 7 months) Age/Diagnosis 32y07m Age/Onset - Phenotype/Onset - Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-05-24 23:40:41 +02:00 (CEST) Date last edited 2024-05-25 09:55:32 +02:00 (CEST)

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