Phenotype #0000015256

Individual ID 00016854
Associated disease MYMY6
Phenotype details 2m: operated for achalasia; 4y7m:two episodes of transient right hemiparesis (left MCA infarct and an
unusual intracranial angiopathy characterized by long arterial stenosis of the left MCA and ACA)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 08y (8 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 17:12:18 +02:00 (CEST)
Date last edited 2016-06-19 09:57:34 +02:00 (CEST)

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