Disease #00545 (GLUT1DS2;DYT18 (GLUT1 deficiency syndrome, type 2, childhood onset (GLUT1DS-2, dystonia type 18 (DYT-18))), OMIM:612126)

Official abbreviation GLUT1DS2;DYT18
Name GLUT1 deficiency syndrome, type 2, childhood onset (GLUT1DS-2, dystonia type 18 (DYT-18))
OMIM ID 612126
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SLC2A1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00448518 284170 family, affected father/daughter - F no Germany - - - - - GLUT1DS2;DYT18 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 SLC2A1 SLC2A1 1 2 Andreas Laner
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