Phenotype #0000337695

Individual ID 00448518
Associated disease GLUT1DS2;DYT18
Phenotype details Freezing of gait, Episodic ataxia, Exercise-induced muscle fatigue, Intellectual disability, mild, Aortic valve stenosis, EEG abnormality, Migraine with aura; Father: gait ataxia, mental retardation
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-03-21 16:21:12 +01:00 (CET)
Date last edited 2024-03-22 00:48:57 +01:00 (CET)

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