Global Variome shared LOVD

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

Phenotype #0000340308 Individual ID 00451647 Associated disease CBSD Phenotype details Mild intellectual disability, Spasticity, Pectus excavatum, Arachnodactyly Diagnosis/Initial Homocystinuria Inheritance Familial, autosomal recessive Diagnosis/Definite Homocystinuria, B6-responsive and nonresponsive types Age/Examination - Age/Diagnosis 10y 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 2024-06-20 21:01:46 +02:00 (CEST) Date last edited 2024-06-28 10:39:35 +02:00 (CEST)

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