Global Variome shared LOVD

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Phenotype #0000015254 Individual ID 00016852 Associated disease MYMY6 Phenotype details 0d:regurgitation episodes; 7m: several episodes of right hemiparesis followed by generalized seizure, severe left hemiplegia, 2 large inffarcts, severe stenosis of both ICA bifurcations associated with moyamoya vessels on the left side; 11m: Achalasia; 3y: intense episode of microvascular dysfunction with cyanosis. These symptoms resolved spontaneously in a few hours; 4,5y:she remained severely disabled. She was able to pronounce only few words and to stay seated only for a few seconds.; 5y: stage 1 hypertension. Moyamoya or other intracranial angiopathy, Anterior circulation involvement, Posterior circulation involvement, Raynaud phenomenon, Livedo reticularis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-06-03 14:32:50 +02:00 (CEST) Date last edited 2016-06-18 22:30:50 +02:00 (CEST)

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