Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000281503 Individual ID 00384650 Associated disease CPEO Phenotype details strabismus (HP:0000486), ophthalmoplegia (HP:0000602), bilateral ptosis (HP:0001488), exotropia ( HP:0000577), ophthalmoparesis ( HP:0000597), Abnormality of eye movement ( HP:0000496) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite progressive external ophthalmoplegia (HP:0000590) Age/Examination 33y (33 years) Age/Diagnosis 33y 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 2021-10-31 18:17:52 +01:00 (CET) Date last edited 2021-11-01 15:59:17 +01:00 (CET)

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