Phenotype #0000015251

Individual ID 00016849
Associated disease MYMY6
Phenotype details 0m: Achalasia; 3y: Stroke; Moyamoya or other intracranial angiopathy, Anterior circulation involvement, Posterior circulation involvement, Hypertension, Low platelet number, Platelet-aggregation abnormal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 22y (22 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 13:45:09 +02:00 (CEST)
Date last edited 2016-06-18 22:24:23 +02:00 (CEST)

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