Global Variome shared LOVD

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

Phenotype #0000340314 Individual ID 00451653 Associated disease MSUD2 Diagnosis/Initial Maple syrup urine disease Diagnosis/Definite Maple syrup urine disease, type II Phenotype details Severe intellectual disability, Central hypothyroidism, Bilateral cryptorchidism Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 08y Age/Onset - 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 2024-06-21 20:54:26 +02:00 (CEST) Date last edited 2024-06-28 09:33:31 +02:00 (CEST)

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