Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/605751 http://purl.bioontology.org/ontology/OMIM/605751
Preferred Name	SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Synonyms	BFIS2 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 BFIC2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BFIS2 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 BFIC2
prefLabel	SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Gene Symbol	BFIC2 PKC DYT10 EKD1 ICCA BFIS2 PRRT2 See more See less
Scope Statement	Seizures remit in early childhood [MISCELLANEOUS] Dyskinesia may occur in homozygotes (1 reported case) [MISCELLANEOUS] Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, 614386.0001) [MOLECULAR BASIS] Average onset 6 months (range 3-9) [MISCELLANEOUS] Seizures easily controlled by medications [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000541 http://purl.bioontology.org/ontology/OMIM/MTHU002812 http://purl.bioontology.org/ontology/OMIM/MTHU002809 http://purl.bioontology.org/ontology/OMIM/MTHU002810 http://purl.bioontology.org/ontology/OMIM/MTHU002807 http://purl.bioontology.org/ontology/OMIM/MTHU002808 See more See less
tui	T047
Gene Locus	16p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	605751
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1853995
OMIM Entry Type	3
OMIM MimType Value	pound

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