Global Variome shared LOVD

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

Phenotype #0000340305 Individual ID 00451644 Associated disease MSUD1B Diagnosis/Initial Maple syrup urine disease Diagnosis/Definite Maple syrup urine disease, type Ib Phenotype details Severe intellectual disability, Seizures, Spasticity, Congenital hip dislocation. Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 00y01m 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 2024-06-20 20:04:42 +02:00 (CEST) Date last edited 2024-06-28 09:59:38 +02:00 (CEST)

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