Global Variome shared LOVD

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Phenotype #0000242926 Individual ID 00324385 Associated disease PVNH1 Phenotype details (+) Abnormality of the nervous system,(+) Aortic regurgitation,(+) EEG abnormality,(+) Abnormality of the cerebral cortex,(+) Cortical tubers,(+) Cerebral hamartoma,(+) Hamartoma. Positive famliy history regarding sympotoms mentioned. Diagnosis/Initial - Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination 28y (28 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 2020-12-09 09:10:19 +01:00 (CET) Date last edited 2020-12-09 13:43:08 +01:00 (CET)

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