Global Variome shared LOVD

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Phenotype #0000142763 Individual ID 00180370 Associated disease PMD;HLD1 Phenotype details severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; microcephaly; auditory brain response only I wave; MRI delayed myelination Diagnosis/Initial connatal Pelizaeus-Merzbacher disease Inheritance Isolated (sporadic) Diagnosis/Definite PMD Age/Examination 4m Age/Diagnosis - Age/Onset 1m Phenotype/Onset microcephaly (-3.2SD) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-09-05 09:32:48 +02:00 (CEST) Date last edited N/A

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