Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620755 http://purl.bioontology.org/ontology/OMIM/620755
Preferred Name	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12
Synonyms	GEFSP12 GEFS+12 GEFS+, TYPE 12
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GEFSP12 GEFS+12 GEFS+, TYPE 12
prefLabel	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12
Gene Symbol	SLC32A1 GEFSP12 VGAT VIAAT DEE114
Scope Statement	Caused by mutation in the solute carrier family 32 (GABA vesicular transporter), member 1 gene (SLC32A1, 616440.0001) [MOLECULAR BASIS] Variable expressivity within and between families [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU047747 http://purl.bioontology.org/ontology/OMIM/MTHU033452 http://purl.bioontology.org/ontology/OMIM/MTHU033403 http://purl.bioontology.org/ontology/OMIM/MTHU051714 http://purl.bioontology.org/ontology/OMIM/MTHU000392 http://purl.bioontology.org/ontology/OMIM/MTHU078541 http://purl.bioontology.org/ontology/OMIM/MTHU004607 See more See less
tui	T047
Gene Locus	20q11.23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620755
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5935592
OMIM Entry Type	3
OMIM MimType Value	pound

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