Global Variome shared LOVD

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

Phenotype #0000340270 Individual ID 00451595 Associated disease CBSD Phenotype details Moderate intellectual disability, lens subluxation, cerebral ischemia Diagnosis/Initial Homocystinuria Inheritance Familial, autosomal recessive Diagnosis/Definite 'Homocystinuria, B6-responsive and nonresponsive types Age/Examination - Age/Diagnosis 07y Age/Onset 02y03m 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 2024-06-12 18:06:07 +02:00 (CEST) Date last edited 2024-06-24 17:09:29 +02:00 (CEST)

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