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Childhood Onset Glut1 Deficiency Syndrome 2 (MONDO:0012805)

A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

Overview

Category

Ontology ID

Internal:13845

Synonyms

DYT18

GLUT1 deficiency syndrome 2, childhood onset

GLUT1 deficiency syndrome type 2

PED

PxMD-SLC2A1

childhood onset GLUT1 deficiency syndrome 2

childhood onset GLUT1 deficiency syndrome type 2

dystonia 18

paroxysmal exercise-induced dystonia

ped

DYT-SLC2A1

GLUT1 deficiency syndrome 2

GLUT1DS2

paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia

paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia

paroxysmal exertion-induced dyskinesia

paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia

paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia

ped with or without epilepsy and/or hemolytic Anaemia

ped with or without epilepsy and/or hemolytic Anemia

Mapped terms

DOID:0090045

GARD:0010541

MEDGEN:330866

MESH:C564288

NANDO:1200531

OMIM:612126

Orphanet:98811

SCTID:724072002

UMLS:C1842534

Child terms

Unknown children.