Global Variome shared LOVD

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Phenotype #0000127227 Individual ID 00154493 Associated disease - Phenotype details see paper; ..., microcephaly, brain atrophy, cortical blindness, spastic quadriplegia, athetoid movement Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y03m Phenotype/Onset - Protein - Owner name Mitsuko Nakashima Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mitsuko Nakashima Date created 2018-02-27 12:04:45 +01:00 (CET) Date last edited 2019-04-11 11:30:58 +02:00 (CEST)

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