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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