Global Variome shared LOVD

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Phenotype #0000355140 Individual ID 00469995 Associated disease MCOP Phenotype details see paper; ..., 1d- bilateral anophthalmia; global developmental delay; nutritional anemia, recurrent chest infections; microcephaly; hearing loss, aphasia, irritable, emaciated look, hyper pigmented, normal limbs, no contractures, no facial dysmorphisms, no asymmetry, no scar marks Diagnosis/Initial anophthalmia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 7y (7 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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