Disease #00643 (THMD-5 (Thiamine metabolism dysfunction syndrome, type 5 (episodic encephalopathy type) (THMD-5)), OMIM:614458)

Official abbreviation THMD-5
Name Thiamine metabolism dysfunction syndrome, type 5 (episodic encephalopathy type) (THMD-5)
OMIM ID 614458
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene TPK1
Associated tissues -
Disease features -
Remarks -