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GENE - TERM ANNOTATION REPORT

RGD ID: 619857
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Grm7
Name: glutamate metabotropic receptor 7
Acc ID: DOID:9005055
Term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Definition: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects.
Definition Source(s): OMIM:618922
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Grm7 ISOGRM7 (Homo sapiens)7240710OMIM  
Grm7 ISOGRM7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesPMID:25741868 PMID:27435318 PMID:28492532 PMID:32286009
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