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GENE - TERM ANNOTATION REPORT

RGD ID: 1606789
Species: Homo sapiens
RGD Object: Gene
Symbol: SMG9
Name: SMG9 nonsense mediated mRNA decay factor
Acc ID: DOID:9004088
Term: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
Definition: This disease is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus .
Definition Source(s): MIM:619995
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)
SMG9 IAGP 7240710OMIM  
SMG9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesPMID:35087184
SMG9 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 
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