Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615006 http://purl.bioontology.org/ontology/OMIM/615006
Preferred Name	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15
Synonyms	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 DEE15 EIEE15
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 DEE15 EIEE15
prefLabel	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15
Gene Symbol	DEE15 MRT12 SIAT6 ST3GAL3 ST3GALII
Scope Statement	Seizures are often refractory [MISCELLANEOUS] Caused by mutation in the ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene (ST3GAL3, 606494.0003) [MOLECULAR BASIS] Onset in the first months of life (3 to 7 months) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU040810 http://purl.bioontology.org/ontology/OMIM/MTHU006120 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU007279 http://purl.bioontology.org/ontology/OMIM/MTHU021880 http://purl.bioontology.org/ontology/OMIM/MTHU013494 http://purl.bioontology.org/ontology/OMIM/MTHU021233 http://purl.bioontology.org/ontology/OMIM/MTHU036571 http://purl.bioontology.org/ontology/OMIM/MTHU025610 See more See less
tui	T047
Gene Locus	1p34.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615006
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554316
OMIM Entry Type	3
OMIM MimType Value	pound

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