Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/611090 http://purl.bioontology.org/ontology/OMIM/611090
Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12
Synonyms	MRT12
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MRT12
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12
Gene Symbol	DEE15 MRT12 SIAT6 ST3GAL3 ST3GALII
Scope Statement	Caused by mutation in the ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene (ST3GAL3, 606494.0001) [MOLECULAR BASIS] Three families have been reported (last curated December 2020) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU054650 http://purl.bioontology.org/ontology/OMIM/MTHU014136 http://purl.bioontology.org/ontology/OMIM/MTHU012914 http://purl.bioontology.org/ontology/OMIM/MTHU003015 http://purl.bioontology.org/ontology/OMIM/MTHU071716 See more See less
tui	T048
Gene Locus	1p34.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611090
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T048
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1970200
OMIM Entry Type	3
OMIM MimType Value	pound

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