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ZIRC
OBO ID: DOID:0090045
Term Name: childhood onset GLUT1 deficiency syndrome 2 Search Ontology:
Synonyms:
Definition: A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (2)
References:
Ontology: Human Disease   (DOID:0090045)
OTHER childhood onset GLUT1 deficiency syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC2A1 GLUT1 deficiency syndrome 2, childhood onset 612126
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None