Global Variome shared LOVD

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Phenotype #0000288761 Individual ID 00395563 Associated disease - Phenotype details rod-cone dystrophy, seizures; affected sister deceased: encephalopathy due to neuronal cytoplasmic deposit in cerebellar cortex and dentate nucleus Diagnosis/Initial Ceroid lipofuscinosis-like disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-12-08 14:12:08 +01:00 (CET) Date last edited N/A

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