Global Variome shared LOVD

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Phenotype #0000337724 Individual ID 00448541 Associated disease BSVD2;POREN2 Phenotype details Cerebral palsy, Hemiparesis, Periventricular leukomalacia, Ventriculomegaly, Esodeviation, Delayed speech and language development, Delayed gross motor development, EEG with focal sharp waves, Abnormality of refraction, Symptomatic seizures Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-04-04 14:36:43 +02:00 (CEST) Date last edited 2024-04-09 16:22:18 +02:00 (CEST)

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