Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618328 http://purl.bioontology.org/ontology/OMIM/618328
Preferred Name	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71
Synonyms	EIEE71 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY DEE71
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EIEE71 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY DEE71
prefLabel	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71
Gene Symbol	CASGID GLS DEE71 GDPAG GLS1
Scope Statement	Two unrelated families have been reported (last curated February 2019) [MISCELLANEOUS] Caused by mutation in the glutaminase gene (GLS, 138280.0001) [MOLECULAR BASIS] Onset at birth [MISCELLANEOUS] Death in first weeks of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU064196 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU064197 http://purl.bioontology.org/ontology/OMIM/MTHU064198 http://purl.bioontology.org/ontology/OMIM/MTHU064199 http://purl.bioontology.org/ontology/OMIM/MTHU028611 http://purl.bioontology.org/ontology/OMIM/MTHU064195 http://purl.bioontology.org/ontology/OMIM/MTHU052952 http://purl.bioontology.org/ontology/OMIM/MTHU055969 http://purl.bioontology.org/ontology/OMIM/MTHU000730 See more See less
tui	T047
Gene Locus	2q32-q34
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618328
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5193030
OMIM Entry Type	3
OMIM MimType Value	pound

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