Online Mendelian Inheritance in Man - EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615127 http://purl.bioontology.org/ontology/OMIM/615127
Preferred Name	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
Synonyms	FAME4 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 4 FCMTE4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FAME4 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 4 FCMTE4
prefLabel	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
Gene Symbol	KIAA1197 YEATS2 FAME4
Scope Statement	Young-adult onset [MISCELLANEOUS] Onset of tremor usually before onset of seizures [MISCELLANEOUS] One family of Thai origin has been reported (last curated November 2019) [MISCELLANEOUS] Anticonvulsants are effective [MISCELLANEOUS] Nonprogressive course [MISCELLANEOUS] Caused by pentanucleotide repeat expansion (TTTCA)n in the YEATS domain-containing protein 2 gene (YEATS2, 613373.0001) [MOLECULAR BASIS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU039493 http://purl.bioontology.org/ontology/OMIM/MTHU041028 http://purl.bioontology.org/ontology/OMIM/MTHU041031 http://purl.bioontology.org/ontology/OMIM/MTHU041033 http://purl.bioontology.org/ontology/OMIM/MTHU041032 http://purl.bioontology.org/ontology/OMIM/MTHU065845 http://purl.bioontology.org/ontology/OMIM/MTHU039494 http://purl.bioontology.org/ontology/OMIM/MTHU065844 http://purl.bioontology.org/ontology/OMIM/MTHU039495 http://purl.bioontology.org/ontology/OMIM/MTHU002978 See more See less
tui	T047
Gene Locus	3q27.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615127
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3554560
OMIM Entry Type	3
OMIM MimType Value	pound

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