Global Variome shared LOVD

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Phenotype #0000319220 Individual ID 00428316 Associated disease - Phenotype details born at term, normal weight; early childhood bilateral blindness; 35y-no light sensation, enophthalmos, ocular shrinkage, corneal leukoma, no growth of massive neovascularizations/other intraocular structures; mild sensorineural deafness; MRI brain normal; mild cognitive impairment (22/30) Diagnosis/Initial congenital blindness Inheritance Familial, X-linked recessive Diagnosis/Definite ND Age/Examination 35y (35 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 2022-12-31 11:23:01 +01:00 (CET) Date last edited N/A

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