Global Variome shared LOVD

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Phenotype #0000281591 Individual ID 00387997 Associated disease PEOA Phenotype details bilateral ptosis (HP:0001488), horizontal ophthalmoplegia (HP:0000602), slight bilateral sensory-neuronal hearing impairment (HP:0008619), atrophy of the mesencephalon pedunculus cerebelli superior (HP:0001272), frontotemporal parts of the brain (HP:0006892) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Progressive external ophthalmoplegia (HP:0000544) Age/Examination 69y (69 years) Age/Diagnosis 69y Age/Onset - Phenotype/Onset - Protein - Owner name Giovanna Aschettino Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Giovanna Aschettino Date created 2021-11-01 16:38:10 +01:00 (CET) Date last edited 2021-11-04 09:43:12 +01:00 (CET)

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