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GENE - TERM ANNOTATION REPORT

RGD ID: 18908090
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Kcnn2
Name: potassium calcium-activated channel subfamily N member 2
Acc ID: DOID:9007317
Term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
Definition: This disease is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms.
Definition Source(s): MIM:619725
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)
Kcnn2 ISOKCNN2 (Homo sapiens)7240710OMIM  
Kcnn2 ISOKCNN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: KCNN2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without variable movement or behavioral abnormalitiesPMID:16002581 PMID:25741868 PMID:33242881 PMID:36746441
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