Global Variome shared LOVD

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Phenotype #0000142754 Individual ID 00180360 Associated disease PMD;HLD1 Phenotype details inspiratory stridor, failure to thrive, nystagmus, spasticity, joint contractures, scoliosis; 21y-head CT scan showed severe atrophy with demyelination; died at 23y autopsy showed marked cerebellar atrophy, microscopic brain sections showed absence of myelin with preservation of axons diffusely within the white matter: Diagnosis/Initial Pelizaeus-Merzbacher disease Inheritance Familial, X-linked recessive Diagnosis/Definite PMD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - 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 08:28:57 +02:00 (CEST) Date last edited N/A

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