Global Variome shared LOVD

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Phenotype #0000187742 Individual ID 00248774 Associated disease MLD Phenotype details late infantile, MRI brain pathological; gross motor impairment as first symptom Diagnosis/Initial metachromatic leukodystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MLD Age/Examination - Age/Onset 01y06m Age/Diagnosis - Phenotype/Onset - Protein 4.61+/-3.65 nmol/mg/h (normal= 154.82+/-44.57) Owner name Alessandra Biffi Database submission license No license selected Created by Alessandra Biffi Date created 2017-05-27 13:39:12 +02:00 (CEST) Date last edited N/A

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