Global Variome shared LOVD

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Phenotype #0000355139 Individual ID 00469994 Associated disease MCOP Phenotype details see paper; ..., 1d-bilateral anophthalmia, small palpable fissures, no vision, hearing loss; global developmental delay; aphasia, unable to carry out routine activities Diagnosis/Initial anophthalmia, spastic paraplegi Inheritance Familial, autosomal recessive Diagnosis/Definite SPG50 Age/Examination 8y (8 years) 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 2025-11-25 14:51:24 +01:00 (CET) Date last edited N/A

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