Global Variome shared LOVD

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Phenotype #0000036683 Individual ID 00049905 Associated disease AOS Phenotype details normal echocardiogram; cutis marmorata, epilepsy, learning difficulties, borderline intellectual function (TIQ 76) at young age, normal IQ at later age; mild periventricular leukomalacia, aplasia cutis congenita scalp (HP:0007385) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - 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 2015-09-15 07:49:06 +02:00 (CEST) Date last edited 2023-03-03 13:48:07 +01:00 (CET)

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