Global Variome shared LOVD

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Phenotype #0000142669 Individual ID 00180274 Associated disease PMD;HLD1 Phenotype details - Diagnosis/Initial hypotonia and horizontal nystagmus Inheritance Familial, X-linked recessive Diagnosis/Definite Pelizaeus-Merzbacher disease Age/Examination 16y (16 years) Age/Diagnosis 09y Age/Onset 00y06m Phenotype/Onset - Protein - Owner name Jesus Molano Mateos Database submission license No license selected Created by Jesus Molano Mateos Date created 2018-08-30 12:21:24 +02:00 (CEST) Date last edited 2018-09-03 11:48:22 +02:00 (CEST)

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