Global Variome shared LOVD

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

Phenotype #0000340294 Individual ID 00451632 Associated disease MSUD1B Diagnosis/Initial Maple syrup urine disease Diagnosis/Definite Maple syrup urine disease, type Ib Phenotype details Mild intellectual disability, scoliosis, clubfoot Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 00y00m12d Age/Onset 00y00m01d Phenotype/Onset - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-06-17 19:56:36 +02:00 (CEST) Date last edited 2024-06-18 16:12:59 +02:00 (CEST)

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